Classic galactosemia is an inherited metabolic disorder due to mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. This study describes the results of the GALT gene analysis of four unrelated Filipino patients with Classic Galactosemia. DNA extracted from dried blood spots and peripheral blood of the patients, age one month to two and a half years, underwent PCR-amplification ...

Two major metabolic disorders are associated with galactose metabolism: galactokinase (ATP : D-galactose1-phosphotransferase, EC 2.7.1.6) deficiency and galactosemia (1) secondary to a deficiency in galactose-i-phosphate uridyl transferase (UTP: a-D-galactose-i-phosphate uridyltransferase, EC 2.7.7.10) activity. One case reported in 1972 (2) described a third enzymatic (UDPglucose 4-epimerase, ...

Galactosemia is detected by newborn screening in New South Wales and managed by the metabolic team at the Children's Hospital at Westmead. Infants with the Duarte variant are not treated. Management is based on the Handbook for Galactosemia prepared in 1998. This handbook provides information for the family on the dietary management, inheritance and ovarian function. The major dietary sources o...

A 34 day-old girl infant was admitted for poor feeding and cholestasis. She had a bulging fontanelle, with no evidence of intracranial infection or hemorrhage. Investigations demonstrated that she had galactosemia. Computed tomographic scans demonstrated the presence of diffuse cerebral edema. After treatment the edema resolved.

A newborn mass-screening program for the early detection of phenylketonuria, maple syrup urine disease, homocystinuria, galactosemia, congenital hypothyroidism, congenital adrenal hyperplasia, using filter paper blood specimens, was started throughout Japan in 1977. The total number of newborns screened by March 2000 reached 29,657,738; this represents 95% of the newborns during this period. A ...

Classic Galactosemia (CG) is a rare, autosomal recessive disease where galactose not metabolized properly due to severe deficiency or absence of the GALT enzyme (galactose-1-phosphate uridyl transferase). At abnormally high levels, becomes an aberrant substrate for aldose reductase, resulting in conversion abnormal and toxic metabolite, galactitol. Newborn screening implementation galactose-res...

In galactosemia, prevention of mental retardation depends on early recognition of the disorder and institution of dietary restriction of galactose. We describe an automated fluorometric micromethod for galactose in whole blood spotted on filter paper. Galactose is oxidized by galactose oxidase to D-galacto-hexadialdose and H2O2 and measured as the highly fluorescent condensation product of homo...