In untreated infants with severe cases of deficient GALT activity, the following findings are typically present: Sepsis (E. coli), hypotonia, lethargy, cataracts, liver dysfunction, bleeding from coagulopathy, jaundice, poor growth within the first few weeks of life etc [8].

In some cases, ascites is spotted during early infancy. In rare occasions, it is diagnosed within the first few days of life. For infants or children with cataracts, galactosemia must be excluded. This is important and seeing an ophthalmologist is advised because some cataracts are not visible except through the use of a slitlamp. This is especially the case with congenital cataracts.

Although its prevalence is unknown, vitreous hemorrhage is a common complication of galactosemia. There is an enigmatic linkage of E. coli sepsis and galactosemia. Galactosemia is often high on the differential diagnosis of term infants with sepsis brought about by infection with this pathogen. Speech, language and learning problems are very common and so language acquisition might be delayed.

In adults with this condition, the most common findings include primary ovarian insufficiency in women or hypergonadotropic hypogonadism. Most black women who have variants of the disease can still get pregnant however. Neurologic abnormalities like tremor, ataxia, dystonia equally occur in most of the patients. Short stature is another minor abnormality. There have been reports of severe galactosemia in patients who went off diet therapy since childhood. This has raised concerns regarding

• Splenomegaly

  There was hepatomegaly in 4, splenomegaly in 2 and ascites in 2 of the cases. One of them had cataract an done had corneal opacity. In all of the cases, non glucose reluctant substance in urine was SGOT 49-270 IU/L between SGPT 3-120 IU/l. [medeniyetmedicaljournal.org]

  […] reasonable to suppose that many others have not been reported and still others have gone unrecognized.The characteristic clinical manifestations of this congenital metabolic defect are early nutritional failure, physical and mental retardation, hepatomegaly, splenomegaly [nejm.org]

  - 발생 빈도 : 1/60,000 정도이다. 2.임상적 증후 - Jaundice(황달), hepatomegaly(간비대증), hepatic cirrhosis(간경변증) - Splenomegaly(비장비대증), ascites(복수) - Feeding difficulties(영양곤란), weight gain(빈약한 체중 증가) - Hypoglycemia(저혈당증), aminoaciduria(아미노산뇨증) - Irritability(자극과민성), [gendix.com]

  Symptoms include vomiting, diarrhea, poor appetite, urinary tract infections, hypotonia, cataracts, splenomegaly, encephalopathy, hepatomegaly, liver dysfunction, jaundice, failure to thrive, and death if treatment is delayed (7,5,2). [inwealthandhealth.com]

  Bozkowa et al. [6] in a study of 17 galactosemic children described hepatomegaly in 94%, jaundice in 81%, splenomegaly in 79%, vomiting in 62% and diarrhea in 56% cases. [academic.oup.com]

• Disability

  […] system for select developmental disabilities (intellectual disability, cerebral palsy, hearing loss, vision impairment, and autism spectrum disorders) conducted by the Developmental Disabilities Branch at the Centers for Disease Control and Prevention [doi.org]

  […] developmental disabilities and (2) Special Education Database of Metropolitan Atlanta. [ncbi.nlm.nih.gov]

  The primary care clinician should monitor children for developmental delays/intellectual disability, order appropriate therapies when needed, and evaluate periodically for coordination problems or problems with balance. [medicalhomeportal.org]

  This type can cause cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems. This sheet will focus on classic galactosemia. Causes Galactosemia is a genetic condition. [winchesterhospital.org]

  With removal of galactose from the diet, affected children may still experience long-term complications, such as cataracts, developmental delay, or intellectual disability. Affected adult women may experience premature ovarian failure. [sema4genomics.com]

• Poor Feeding

  Snapshot A two-week-old infant is brought to the emergency department because of diarrhea, poor feeding, abdominal distention, and vomiting for the past 3 days. [medbullets.com]

  If an infant is not screened and/or left untreated, symptoms begin to appear early in infancy, and can include poor feeding, failure to thrive, liver dysfunction, and mental retardation. [phpa.health.maryland.gov]

  Clinical description Infants usually develop feeding difficulties, poor weight gain and growth, lethargy, and jaundice in the common severe form of the disorder, i.e. classic galactosemia. [orpha.net]

  Symptoms of galactosemia are: Convulsions Irritability Lethargy Poor feeding -- baby refuses to eat formula containing milk Poor weight gain Yellow skin and whites of the eyes (jaundice) Vomiting People with this condition must avoid all milk, products [medlineplus.gov]

  Provide emergency treatment/referral for symptoms of poor feeding, lethargy, jaundice, vomiting, bulging fontanel. Discontinue breast or cow milk formula feeding, start feeding with Prosobee or Isomil soy formulas. [medicalhomeportal.org]

• Feeding Difficulties

  Galactosemia in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, failure to thrive, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, cataracts, hepatic cirrhosis, ascites, and mental retardation [ncbi.nlm.nih.gov]

  If galactose is not removed from the diet, infants will develop lethargy and jaundice, feeding difficulties and will fail to gain weight. Sepsis and death may occur. [sema4genomics.com]

  Affected infants typically develop feeding difficulties, lethargy, failure to thrive, jaundice, liver damage, and abnormal bleeding. Galactosemia type II and type III are less common and are typically less severe. [flybase.org]

  Therefore, infants with galactosemia who are on a diet that includes lactose will develop lethargy and jaundice, feeding difficulties and will fail to gain weight. Sepsis and death may occur if galactose is not removed from the diet. [sema4.com]

  Clinical description Infants usually develop feeding difficulties, poor weight gain and growth, lethargy, and jaundice in the common severe form of the disorder, i.e. classic galactosemia. [orpha.net]

• Ascites

  Herein we present a case of galactosemia who presented with ascites and was diagnosed in the newborn period. A 26-day male patient was sent to our hospital because of abdominal distension and ascites. [go.gale.com]

  Galactosemia in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, failure to thrive, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, cataracts, hepatic cirrhosis, ascites, and mental retardation [ncbi.nlm.nih.gov]

  There was hepatomegaly in 4, splenomegaly in 2 and ascites in 2 of the cases. One of them had cataract an done had corneal opacity. In all of the cases, non glucose reluctant substance in urine was SGOT 49-270 IU/L between SGPT 3-120 IU/l. [medeniyetmedicaljournal.org]

  - 발생 빈도 : 1/60,000 정도이다. 2.임상적 증후 - Jaundice(황달), hepatomegaly(간비대증), hepatic cirrhosis(간경변증) - Splenomegaly(비장비대증), ascites(복수) - Feeding difficulties(영양곤란), weight gain(빈약한 체중 증가) - Hypoglycemia(저혈당증), aminoaciduria(아미노산뇨증) - Irritability(자극과민성), [gendix.com]

  Physical Exam: hepatomegaly, hypotonia, edema, ascites, full fontanelle, encephalopathy, and excessive bruising or bleeding. [pedclerk.bsd.uchicago.edu]

• Weakness

  The nucleotide portion of UDP-galactose and UDP-glucose participates in the epimerization process in two ways: 1) by serving as a binding anchor that allows epimerization to take place at glycosyl-C-4 through weak binding of the sugar, and 2) by inducing [fasebj.org]

  Students can check their progress, strength’s and weakness on the concepts they are learning and focus much better on weaker areas to feel much confident for their boards. 9. [youtube.com]

  […] include: loss of appetite vomiting jaundice, which is yellowing of the skin and other parts of the body liver enlargement liver damage fluid building up in the abdomen and swelling abnormal bleeding diarrhea irritability fatigue or lethargy weight loss weakness [healthline.com]

• Vomiting

  Snapshot A two-week-old infant is brought to the emergency department because of diarrhea, poor feeding, abdominal distention, and vomiting for the past 3 days. [medbullets.com]

  The classic form is caused by udpglucose-hexose-1-phosphate uridylyltransferase deficiency, and presents in infancy with failure to thrive; vomiting; and intracranial hypertension. [icd9data.com]

  Any baby with symptoms of galactosemia (for example, vomiting) should be given enzyme tests. Treatment Galactosemia I and II are treated by removing galactose from the diet. [medical-dictionary.thefreedictionary.com]

  To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, diarrhea, failure to thrive, hypoglycemia, coagulopathy [ncbi.nlm.nih.gov]

  Bozkowa et al. [6] in a study of 17 galactosemic children described hepatomegaly in 94%, jaundice in 81%, splenomegaly in 79%, vomiting in 62% and diarrhea in 56% cases. [academic.oup.com]

• Diarrhea

  To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, diarrhea, failure to thrive, hypoglycemia, coagulopathy [ncbi.nlm.nih.gov]

  Symptoms include vomiting, jaundice, diarrhea, and abnormal growth. The diagnosis is based on blood and urine tests. Even with adequate treatment, affected children still develop mental and physical problems. [merckmanuals.com]

  They include: feeding problems (poor weight gain) diarrhea vomiting extreme sleepiness (lethargy) yellowish skin (jaundice) enlarged liver Early treatment helps to prevent serious and life-threatening health problems such as: low blood sugar (hypoglycemia [newbornscreening.on.ca]

• Failure to Thrive

  The classic form is caused by udpglucose-hexose-1-phosphate uridylyltransferase deficiency, and presents in infancy with failure to thrive; vomiting; and intracranial hypertension. [icd9data.com]

  […] to thrive, bleeding diathesis, and jaundice, hypoglycemia, hepatocellular damage, and hyperammonemia If untreated in infants can result in Liver damage Sepsis Mental retardation If suspected remove lactose from diet while tests are pending If placed [en.wikibooks.org]

  Galactosemia in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, failure to thrive, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, cataracts, hepatic cirrhosis, ascites, and mental retardation [ncbi.nlm.nih.gov]

  Clinical findings seen in newborn period are; poor sucking jaundice, failure to thrive, bleeding diathesis. [medeniyetmedicaljournal.org]

• Lactose Intolerance

  Lactose intolerance occurs when a person is unable to metabolize lactose, but can usually breakdown galactose. Lactose intolerance is rare in infants and more common in older children and adults. [babygooroo.com]

  Milk sugar is called lactose. Lactose is digested by the enzyme lactase, forming the the sugars glucose and galactose. Lactose intolerance is the inability to break down lactose. This causes digestive problems, but is not dangerous to health. [nutritiontactics.com]

  Lactose intolerance occurs when the small intestine does not produce enough lactase enzyme to digest the lactose sugar (9). A person with galactosemia can produce lactase and a person with lactose intolerance will be able to process galactose. [momjunction.com]

  Galactosemia is sometimes confused with lactose intolerance, but galactosemia is a more serious condition. [newworldencyclopedia.org]

  Infants with classic galactosemia cannot be breast-fed due to lactose in human breast milk and are usually fed a soy-based formula.[10] Galactosemia is sometimes confused with lactose intolerance, but galactosemia is a more serious condition. [en.wikipedia.org]

• Nausea

  Compared to Galactokinase Deficiency, symptoms are more severe, and present in infancy with jaundice, hepatomegaly, nausea/vomiting, failure to thrive, infantile cataracts, and intellectual disability. [pixorize.com]

  A build-up of galactose may initially cause symptoms in infants including feeding difficulties, lack of energy, weight loss, nausea and vomiting. [geneticdiseasefoundation.org]

  Affiliated tissues include liver, testes and bone, and related phenotypes are intellectual disability and nausea and vomiting Disease Ontology : 12 A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels [malacards.org]

  Shortly after birth an intolerance to milk occurs; it is evidenced by anorexia, nausea, vomiting, and diarrhea and causes failure to thrive. Hepatosplenomegaly, cataracts, and mental retardation develop. [medical-dictionary.thefreedictionary.com]

• Jaundice

  (yellow) R17 ICD-10-CM Diagnosis Code R17 Unspecified jaundice 2016 2017 2018 2019 Billable/Specific Code Type 1 Excludes neonatal jaundice ( P55, P57 - P59 ) newborn P59.9 ICD-10-CM Diagnosis Code P59.9 Neonatal jaundice, unspecified 2016 2017 2018 [icd10data.com]

  Physical exam reveals a temperature of 39 deg Celsius, cataracts, hepatomegaly, and jaundice. The mother says the only change has been that she recently began giving him milk products. [medbullets.com]

  Am 04.08.2016 veröffentlicht In this video the biochemical mechanism for the presence of jaundice in classic galactosemia is explained. [youtube.com]

  In classic galactosemia, symptoms of malnutrition, hepatomegaly, jaundice, and mental deficiency present within the first few weeks of life. The disease is fatal if undiagnosed and untreated. [aao.org]

• Hepatomegaly

  In classic galactosemia, symptoms of malnutrition, hepatomegaly, jaundice, and mental deficiency present within the first few weeks of life. The disease is fatal if undiagnosed and untreated. [aao.org]

  There was no icterus, hepatomegaly and bleeding tendencies. There was no hypotonia and the auditory startle was normal. His weight on admission was 2.8 kg. [academic.oup.com]

  Galactosemia in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, failure to thrive, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, cataracts, hepatic cirrhosis, ascites, and mental retardation [ncbi.nlm.nih.gov]

  Physical Exam: hepatomegaly, hypotonia, edema, ascites, full fontanelle, encephalopathy, and excessive bruising or bleeding. [pedclerk.bsd.uchicago.edu]

• Hepatosplenomegaly

  Affected individuals also may develop mental retardation; jaundice; hepatosplenomegaly; ovarian failure (primary ovarian insufficiency); and cataracts. [icd9data.com]

  Hepatosplenomegaly, cataracts, and mental retardation develop. [medical-dictionary.thefreedictionary.com]

  Although infection subsided and TPN was removed, his clinical features such as jaundice, hepatosplenomegaly, and lethargy persisted. [content.sciendo.com]

  […] frequency is 1/125 Presentation An infant with classic galactosemia appears normal at birth upon being fed milk, will develop jaundice vomiting lethargy irritability convulsions Continued feeding of milk products to the infant leads to cataract formation hepatosplenomegaly [medbullets.com]

• Visual Impairment

  impairment) Decreased bone mineral density 12. [slideshare.net]

  These may include: Poor growth Learning disabilities Speech and language problems Fine and gross motor skill delays Ovarian failure Cataracts—usually regress with dietary treatment, leaving no remaining visual impairment Decreased bone mineral density—usually [winchesterhospital.org]

  Complications due to Galactosemia could include: Liver enlargement - could progressively lead to liver cirrhosis and liver failure Visual impairment from cataract Mental disabilities, delayed speech development Severe bacterial infection Low blood sugar [dovemed.com]

  impairment Decreased bone mineral density Ataxia and tremor Ataxia and tremor may become evident with time in some patients. [medicalhomeportal.org]

• Osteoporosis

  […] that many others have not been reported and still others have gone unrecognized.The characteristic clinical manifestations of this congenital metabolic defect are early nutritional failure, physical and mental retardation, hepatomegaly, splenomegaly, osteoporosis [nejm.org]

  The symptoms and signs of this disease in infancy are: failure to gain weight, retardation of development, enlargement of the liver and spleen, melituria, excretion of albumin in the urine, often osteoporosis and cataract formation. [pediatrics.aappublications.org]

  With premature ovarian failure the use of HRT to prevent osteoporosis should be considered and androgen deficiency may well merit attention in men; however, the risk of hypogonadism in men with the condition is much less than in affected women. [patient.info]

  Osteoporosis common in children with galactosemia Calcium supplementation at 750 mg/day in neonates and >1200 mg/day in children, along with vitamin D3 (cholecalciferol) at 1000 IU/day, may prevent decreased bone mineralization. [medicalhomeportal.org]

• Irritability

  […] accumulation of galactose 1-phosphate in liver, kidney, and brain incidence is 1/62,000 births carrier frequency is 1/125 Presentation An infant with classic galactosemia appears normal at birth upon being fed milk, will develop jaundice vomiting lethargy irritability [medbullets.com]

  An infant with galactosemia may develop jaundice, vomiting, lethargy, irritability and convulsions. Causes Galactosemia is an inherited disorder. This means it is passed down through families. [mountsinai.org]

  Symptoms of galactosemia are: Convulsions Irritability Lethargy Poor feeding -- baby refuses to eat formula containing milk Poor weight gain Yellow skin and whites of the eyes (jaundice) Vomiting People with this condition must avoid all milk, products [medlineplus.gov]

  Symptoms of galactosemia are: Convulsions Irritability Lethargy Poor feeding -- baby refuses to eat formula containing milk Poor weight gain Yellow skin and whites of the eyes (jaundice) Vomiting Exams and Tests Tests to check for galactosemia include [ufhealth.org]

  - 발생 빈도 : 1/60,000 정도이다. 2.임상적 증후 - Jaundice(황달), hepatomegaly(간비대증), hepatic cirrhosis(간경변증) - Splenomegaly(비장비대증), ascites(복수) - Feeding difficulties(영양곤란), weight gain(빈약한 체중 증가) - Hypoglycemia(저혈당증), aminoaciduria(아미노산뇨증) - Irritability(자극과민성), [gendix.com]

• Seizure

  It manifests in the central nervous system in the form of hypotonia, seizures, mental retardation, tremor, ataxia, and progressive cerebellar as well as extrapyramidal features. [ncbi.nlm.nih.gov]

  […] extreme sleepiness (lethargy) yellowish skin (jaundice) enlarged liver Early treatment helps to prevent serious and life-threatening health problems such as: low blood sugar (hypoglycemia) liver damage cataracts serious complication of infections (sepsis) seizures [newbornscreening.on.ca]

  Screen for decreased RBC concentrations of galactose 1-phosphate uridyltransferase increased concentrations of galactose 1-phosphate (in serum and urine) Differential hereditary fructose intolerance presents with vomiting, lethargy, and seizures when [medbullets.com]

  Additional findings may include poor weight gain, renal failure, coagulopathy, hypoglycemia, seizures, cerebral edema, cataracts, vitreous hemorrhage, neutropenia, and Escherichia coli sepsis. [statpearls.com]

  hepatomegaly (an enlarged liver), cirrhosis, renal failure, cataracts, vomiting, seizure, hypoglycemia, lethargy, brain damage, and ovarian failure. Without treatment, mortality in infants with galactosemia is about 75%. [nicklauschildrens.org]

• Profound Intellectual Disability

  Early diagnosis and treatment with a lactose-restricted (dairy-free) diet is absolutely essential to avoid profound intellectual disability, liver failure and death in the newborn period. [rarediseases.org]

• Clumsiness

  Other neurological complications were general motor abnormality (clumsiness, coordination difficulties) in 27.0% (86/319), ataxia in 12.2% (40/329), seizures in 8.1% (26/320) and dystonia in 7.5% (24/318) of patients. [ojrd.biomedcentral.com]

In many cases, workup begins with newborn screening. With a positive indication for the newborn screening quantitative erythrocyte galactose-1-phosphate uridyltransferase (GALT) analysis follows. The test has to be carried out in laboratories that perform biochemical genetic consultation and testing.

To help distinguish variant forms like the Duarte defect a GALT isoelectric-focusing electrophoresis test is conducted. GALT genotyping provides a specific molecular diagnosis in some cases. In Caucasians, the most common GALT allele is the Q188R mutation. In blacks, it is the S135L mutation [9].

Urine reducing substance tests will also help in establishing this defect. The results of the tests are often abnormal, in children with this problem taking in lactose diets. Rather than a dipstick test, this test is a tube test and it has to be differentiated from the normal urine dipstick test for glucose. Imaging scans like an MRI can also be used to confirm brain abnormalities.

• Hypoglycemia

  All the signes seen in these disorders like bilateral cataract, mental retardation, jaundice and fasting hypoglycemia has been explained. [youtube.com]

  Galactosemia in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, failure to thrive, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, cataracts, hepatic cirrhosis, ascites, and mental retardation [ncbi.nlm.nih.gov]

  They include: feeding problems (poor weight gain) diarrhea vomiting extreme sleepiness (lethargy) yellowish skin (jaundice) enlarged liver Early treatment helps to prevent serious and life-threatening health problems such as: low blood sugar (hypoglycemia [newbornscreening.on.ca]

  Additional findings may include poor weight gain, renal failure, coagulopathy, hypoglycemia, seizures, cerebral edema, cataracts, vitreous hemorrhage, neutropenia, and Escherichia coli sepsis. [statpearls.com]

• Liver Biopsy

  The lost case was diagnosed by clinical findings, reducing substance positively in were, liver biopsy findings and improvement in symptoms by lactose free diet. [medeniyetmedicaljournal.org]

  Although the patient was thought to have cytomegaloviral hepatitis, a percutaneous liver biopsy helped direct the evaluation toward identifying the galactosemia carrier state in both parents. [ncbi.nlm.nih.gov]

  Initial liver biopsy has been lately performed. [content.sciendo.com]

  Of the 14 liver biopsies done 12 showed cirrhosis or bridging fibrosis. Out of 18 patients who were compliant with the diet, 87% cases survived. [indianpediatrics.net]

The only treatment for galactosemia is eliminating lactose and galactose from the diet.

When left untreated, classic cases of galactosemia can be life threatening. Fortunately, medical advancements around developed countries of these world means that infants are treated before the condition gets out of hand.

If the infant with galactosemia is severely ill before treatment (with liver dysfunction, coagulopathy, sepsis) he or she may develop permanent liver, eye or brain damage. Cataracts are generally totally reversible. Patients with severe galactosemia who do not receive treatment rarely survive past the newborn period [10].

Again, even when the right dietary therapy is there, majority of patients show at least 1-2 complications over the long term.

Classic galactosemia cases are caused by a severe deficiency in GALT [6]. This deficiency is a genetic condition of the autosomal recessive kind. The gene for GALT can be found on chromosome 9p13.

In the United States, the incidence of this disorder is 1 case per 40,000-60,000 individuals. Internationally, there is a wide variation in terms of incidence. For instance, this ailment is prevalent in 1 case out of 70,000 people in the UK but in Ireland, only 1 out of 20,000 people. The disorder is not commonly reported amongst Asians [3].

Life expectancy has not been properly documented in individuals with this defect. However, there is a high mortality rate amongst new born infants who often develop sepsis caused by Escherichia coli. With the institution of a galactose-restricted diet, most patients reach adulthood [4].

Galactosemia can be seen in all races but the variants are dependent on the type of gene defect. The variants are mostly seen amongst the black population. Amongst affected individuals, 10% of enzyme activity is reported in the liver but there is no activity in the erythrocytes. In places where newborn screening is not possible, the individual’s ability to tolerate the ingestion of some milk hinders diagnosis.

The Duarte variant is a recognized benign variety of the galactosemia problem. Amongst neonates with this defect, the newborn screening test results may or may not be positive and some of the neonates can easily tolerate normal diets. Such individuals may show increased galactose metabolite levels during infancy but less so in childhood [5].

It is still unknown whether dietary galactose restriction is necessary or beneficial for patients with the Duarte variant of galactosemia. A conservative approach which involves galactose restriction in the first year of life is taken by most metabolic disease experts. However, the restriction is largely down to the theoretical concerns of galactose toxicity in children with this Duarte variant.

Galactosemia affects both males and females equally. The disease is often diagnosed at infancy the most but variant forms of galactosemia can be diagnosed much later in adult life.

Hypergalactosemia is associated mostly with 3 major enzyme deficiencies. They are as follows:

• Galactokinase’s conversion of galactose to galactose-1-phosphate (not a common deficiency).
• Uridine diphosphate (UDP) galactose-4-epimerase’s epimerization of UDP galactose to UDP glucose (not also common).
• GALT responsible for hereditary galactosemia. This is the most common deficiency. This enzyme catalyzes the conversion of galactose-1-phospahte and UDP glucose into UDP galactose and glucose-1-phosphate. People with GALT deficiency show abnormal galactose tolerance [7].

There are no guidelines for prevention of Galactosemia.

Galactosemia in its hereditary form is a common carbohydrate metabolism condition. The disorder may be life threatening during the new born period.

First described in the variant patient in 1935 by mason and turner, GALT deficiency is the most common cause of hypergalactosemia. GALT means galactose-1-phosphate uridyltransferase [1].

The toxicity associated with infantile diseases can be dealt with appropriately by removing lactose However, complications occur long term [2].

For children who have the Galactosemia defect, a good deal of collaboration is required between the parents and the health personnel. Such children must only be given meals as prescribed by the experts.

However, you need to keep in mind that there is basically no classic diet for this defect. With different parents, doctors and clinics, different rules are followed. We have mentioned two guides followed by many nutritionist, clinics and doctors. You can get them from any closest health office to you.

It is still advised that you check with your clinic before settling for a specific diet regime. The importance of following your own doctor’s advice is important because various clinics have different recommendations.

This may add to the frustration of dealing with the condition but with proper collaboration between parents and the clinic, it becomes easier to make the best decision for the condition.

1. Berry GT, Segal S and Gitzelmann R. Disorders of Galactose Metabolism. In: Fernandes J, Saudubray M, van den Berghe G, Walter JH. Inborn Metabolic Diseases - Diagnosis and Treatment. 4. New York, NY: Springer-Verlag, Inc; 2006.
2. Segal S. Galactosemia unsolved. Eur J Pediatr. 1995;154(7 Suppl 2):S97-102.
3. Fridovich-Keil J, Walter. Galactosemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill Medical Publishing Division; 2008:72.
4. Mason HH, Turner ME. Chronic galactosemia: report of case with studies on carbohydrates. Am J Dis Child. 1935;50:359-74.
5. Komrower GM, Lee DH. Long-term follow-up of galactosaemia. Arch Dis Child. Jun 1970;45(241):367-73.
6. Hirokawa H, Okano Y, Asada M, et al. Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients. Eur J Hum Genet 1999; 7:757.
7. National Newborn Screening and Genetics Resource Center; 2002 Newborn Screening and Genetic Testing Symposium.
8. Coman DJ, Murray DW, Byrne JC, et al. Galactosemia, a single gene disorder with epigenetic consequences. Pediatr Res 2010; 67:286.
9. Beutler E, Baluda MC, Sturgeon P, Day R. A new genetic abnormality resulting in galactose-1-phosphate uridyltransferase deficiency. Lancet 1965; 1:353.
10. Kelley RI, Segal S. Evaluation of reduced activity galactose-1-phosphate uridyl transferase by combined radioisotopic assay and high-resolution isoelectric focusing. J Lab Clin Med 1989; 114:152.