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]

Patients may present before the results of the screen are known. Consider Galactosemia in the ill-appearing neonate, especially less than 2 weeks of age. [pedemmorsels.com]

• Turkish

  […] mutations at the galactose-1-phosphate uridyl transferase 'GALT' gene. ( 10408771 ) Tyfield L....Boleda M.D. 1999 34 Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish [malacards.org]

• Sputum

  Sputum culture showed a growth of Acinetobacter baumannii and Enterobacter cloacae. He received antibiotics for 14 days. [degruyter.com]

• 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]

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

  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, 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]

• Persistent Vomiting

  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]

• Corneal Opacity

  Corneal opacity was noticed in the left eye. 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]

• Purpura

  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]

• Cryptorchidism

  The male reproductive system in classic galactosemia: cryptorchidism and low semen volume. J Inherit Metab Dis. 2013; 36 :779–86. [ PubMed : 23053469 ] Guerrero NV, Singh RH, Manatunga A, Berry GT, Steiner RD, Elsas LJ. [ncbi.nlm.nih.gov]

• No Speech Development

  These complications can develop: Cataracts Cirrhosis of the liver Delayed speech development Irregular menstrual periods, reduced function of ovaries leading to ovarian failure Mental disability Severe infection with bacteria ( E coli sepsis ) Tremors [medlineplus.gov]

  Possible Complications These complications can develop: Cataracts Cirrhosis of the liver Delayed speech development Irregular menstrual periods, reduced function of ovaries leading to ovarian failure Mental disability Severe infection with bacteria [ufhealth.org]

  Developmental evaluation, and focus on speech development with appropriate interventions are recommended; Failure to thrive: today is not curable. [flipper.diff.org]

• Vocal Tremor

  Three children, two diagnosed with CAS and one not diagnosed with a motor speech disorder, had vocal tremors. Treatment of voice dysfunction in neurogenic speech disorders is discussed. [ncbi.nlm.nih.gov]

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]

• White Matter Lesions

  An abnormal white-matter signal on cerebral magnetic resonance imaging (MRI) is present in almost all patients; some have mild cerebral or cerebellar atrophy and focal white-matter lesions. [ncbi.nlm.nih.gov]

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

Treatment is dietary elimination of galactose. Physical prognosis is good with treatment, but cognitive and performance parameters are often subnormal. Galactose is present in dairy products, fruits, and vegetables. [merckmanuals.com]

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]

[…] 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]

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

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]

Physical prognosis is good with treatment, but cognitive and performance parameters are often subnormal. Galactose is present in dairy products, fruits, and vegetables. Autosomal recessive enzyme deficiencies cause 3 clinical syndromes. [merckmanuals.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]

In order to prevent accumulation of gal-1-p caused by GALT-deficiency, we experimentally screened over 300,000 chemical compounds against human galactokinase (GALK) in vitro. [scholarlyrepository.miami.edu]