Galactosemia. Galactose-1-phosphate uridyl-transferase deficiency
Incidence
1:64.000, AR inheritance. 90% of pts. have complete enzyme deficiency. Occasional pts present in childhood with MR
Clinical Characteristics
Pts. are normal at birth. Symptoms in severe cases may develop during the first week of life. Neonatal jaundice. Hepatosplenomegaly, cataracts, hypotonia, absent Moro reflex. Tendency to have sepsis (E. Coli) lead to death neonatally. Galactosuria. Proteinuria, marked aminoaciduria without hyperaminoacidemia. Early abnormal LFT. If untreated= severe FTT, progressive hepatic cirrhosis, prothrombin defic. In less severe cases, Sx manifest at 3-6 mo.with FTT, delay, etc.
Precipitants
Intake of milk or milk products worsen the disease and clinical Sx.
Provocation Tests
none
Diagnostic Procedures
EB-RBC (measurement of erythrocyte transferase activity). Benedict's test in urine (part of urine metabolic screening) is positive.