To report a case of classic galactosemia that presented with a rare ocular finding, Peters' anomaly. A neonate, born to first-degree healthy cousins, presented with persistent vomiting, failure to thrive, lethargy, and jaundice. [ncbi.nlm.nih.gov]

[…] fructose is consumed Treatment Treatment involves eliminating all sources of galactose in the diet most notably lactose which is present in all dairy products sweetener in many foods. [medbullets.com]

A mutation common in Hispanic/African American individuals is associated with a milder presentation and these children can present later in childhood. [pedclerk.bsd.uchicago.edu]

• Infertility

  Author information 1 Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, The C.S. [ncbi.nlm.nih.gov]

  POI can vary from subfertility, to early development of irregular menstrual cycles and infertility, to primary amenorrhea and absence of spontaneous puberty. The mechanisms causing ovarian dysfunction are unknown. [oncofertility.northwestern.edu]

• Anorexia

  Signs & Symptoms An infant with galactosemia appears normal at birth, but within a few days or weeks loses his or her appetite (anorexia) and starts vomiting excessively. [rarediseases.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]

• Short Stature

  Adults may have short stature, ataxia and/or tremor. Hypergonadotrophic hypogonadism is common and in women, premature ovarian failure. Those who conceive often have variant disease. [patient.info]

• Failure to Thrive

  A neonate, born to first-degree healthy cousins, presented with persistent vomiting, failure to thrive, lethargy, and jaundice. Corneal opacity was noticed in the left eye. [ncbi.nlm.nih.gov]

  This is also known as failure to thrive. Learn more about what failure to thrive means for your child. Multiple complications can appear if galactosemia isn’t diagnosed and treated right away. The buildup of galactose in the blood can be dangerous. [healthline.com]

  […] to thrive, vomiting, and intracranial hypertension; affected individuals also may develop mental retardation, jaundice, hepatosplenomegaly, ovarian failure and cataracts. [icd10data.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]

  Females with galactosemia are at increased risk for premature ovarian failure. Infants affected by galactosaemia typically present with symptoms of lethargy, vomiting, diarrhoea, failure to thrive and jaundice. [southtees.nhs.uk]

• Loss of Appetite

  The most common symptoms 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 [healthline.com]

• Liver Dysfunction

  Liver dysfunction (n = 22, 100%), Escherichia coli sepsis (n = 10), purpura fulminans (n = 1), hemophagocytosis (n = 1), and long QT syndrome (n = 1) were also noted. [ncbi.nlm.nih.gov]

  Generalized epimerase deficiency galactosemia is treated by a galactose- and lactose-restricted diet, which can improve or prevent the symptoms of renal and liver dysfunction and mild cataracts. [mayomedicallaboratories.com]

  Lab Findings Liver dysfunction- conjugated/unconjugated hyperbilirubinemia, abnormal LFTs, coagulopathy, increased plasma aa (phenylalanine, tyrosine, methionine) Renal tubular dysfunction- metabolic acidosis, galactosuria and glycosuria, albuminuria [pedclerk.bsd.uchicago.edu]

  Liver dysfunction is a predominant clinical manifestation. Jaundice appeared shortly after breast-feeding. [degruyter.com]

  dysfunction) before treatment for galactosemia is initiated may develop permanent liver, brain, and/or eye damage (although cataracts are often completely reversible). [emedicine.medscape.com]

• Forgetful

  Don’t forget about genetics and biochemistry ! ( ok, you don’t have to remember all of the details… but know it is important! ) The Newborn Screen won’t save you. Patients may present before the results of the screen are known. [pedemmorsels.com]

  Hum Mutat. 2002;19 : 82–83 [Medline] Rubio-Gozalbo ME, Hamming S, van Kroonenburgh MJ, Bakker JA, Vermeer C, Forget PP. Bone mineral density in patients with classic galactosaemia. [wvdhhr.org]

• Hyperactivity

  A review on structural and functional connectivity in attention deficit hyperactivity disorder. Hum Brain Mapp 31, 904–916, doi: 10.1002/hbm.21058 (2010). 46. Cohen, J., Cohen, P., West, S. G. & Aiken, L. S. [nature.com]

Hydration and empiric antibiotics were started after collection of the required blood work, which included both a septic and a metabolic workup. [ncbi.nlm.nih.gov]

There is a need for evidence-based recommendations to better standardize treatment for this disorder. [ncbi.nlm.nih.gov]

SHOWING 1-10 OF 22 REFERENCES Galactosaemia: Early treatment with an elemental formula C. O. ZlatunichS. [semanticscholar.org]

Prompt treatment is needed to prevent serious health problems and intellectual disabilities. Babies with galactosemia who do not start treatment shortly after birth may have permanent effects. [newbornscreening.info]

Treatment Dietary Treatments Your baby may need to avoid foods with lactose and galactose (sugars found in milk) to prevent the toxic build-up of undigested sugars in their blood. [babysfirsttest.org]

Despite decades of research, the pathophysiology of these long-term complications remains obscure, hindering prognosis and attempts at improved intervention. [ncbi.nlm.nih.gov]

[…] are strictly avoided the prognosis is for a normal life Without optimal treatment, the child remains physically stunted and mentally retarded many also have cataracts and rickets most female patients have ovarian failure Please rate topic. [medbullets.com]

[…] galactose 1-phosphate (gal-1-P) levels remained well above the treatment range on a low-galactose (soy) formula is reported, which suggests further study be considered to determine whether a truly galactosed diet in infancy could alter the long-term prognosis [semanticscholar.org]

While the long-term prognosis may be variable, prenatal and especially newborn screening are key in identifying those affected and promptly administrating a proper treatment. [haasegen564s17.weebly.com]

[…] tissues and organs, leading to the characteristic features of Galactosemia Please find comprehensive information on Galactosemia regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis [dovemed.com]

The percentage of subjects with BMD-Z CONCLUSIONS: Bone density in adults with galactosemia is low, indicating the potential for increased fracture risk, the etiology of which appears to be multifactorial. [ncbi.nlm.nih.gov]

Epidemiology Galactosaemia (galactosemia in USA literature) is an autosomal recessive inherited condition. [ 2 ] The incidence of classical galactosaemia in white Americans is around 1 in 47,000. [ 4 ] Presentation [ 2, 3, 5 ] This may be rather variable [patient.info]

Perhaps a more plausible approach would be to conduct an epidemiologic investigation to locate a substantial number of adults 20–40 years of age who had DG detected at birth but whose galactose intake had never been restricted. [clinchem.aaccjnls.org]

Epidemiology Frequency United States The incidence of galactosemia is approximately 1 case per 40,000-60,000 persons. [2] International Incidence widely varies (ie, 1 case in 70,000 people in the UK but 1 case in 16,476 people in Ireland [2, 3] ). [emedicine.medscape.com]

EPIDEMIOLOGY The incidence of classic galactosemia is about 1 per 30 000 live births for Caucasians. In other populations the incidence rate differs. [flipper.diff.org]

Despite decades of research, the mechanisms that underlie pathophysiology in classic galactosemia remain unclear. [ncbi.nlm.nih.gov]

Early diagnosis seems important in the prevention of severe cataracts. Therefore, newborn screening for galactosemia should improve morbidity. [ncbi.nlm.nih.gov]

How can it be prevented? Galactosemia is not preventable, but further damage is often preventable by removing galactose from the diet. [drgreene.com]

However, early (before 17 days of age) dietary restrictions can prevent their formation or even lead to regression. They result from the osmotic imbalance caused by the presence of accumulated galactitol. [disorders.eyes.arizona.edu]