Internal Medicine

0521779407-08 CUNY1086/Karliner 0 521 77940 7 June 13, 2007 7:47

596 Galactosemia

Galactosemia.......................................

GREGORY M. ENNS, MD

history & physical

History

■history of parental consanguinity or previously affected sibling

(autosomal recessive inheritance)

■newborn screen positive (most states, many countries screen for

galactosemia, incidence∼1/40,000)

Signs & Symptoms

■Neonatal: poor feeding, lethargy, vomiting, diarrhea, jaundice, hep-

atomegaly, ‘neonatal hepatitis’, cataracts, sepsis (esp.E. colior other

Gram negative organisms), full fontanel

■later features: failure to thrive, mental retardation, ovarian failure

■rare features: seizures, ataxia

tests

Laboratory

■basic blood studies:

➣newborn screen positive (e.g. Beutler fluorescent spot test)

➣elevated AST/ALT, bilirubin (unconjugated or combined con-

jugated/unconjugated), prothrombin time, metabolic acidosis

(renal tubular dysfunction)

■basic urine studies:

➣reducing substances positive (after galactose ingestion) – poor

sensitivity/specificity

➣proteinuria, glycosuria, aminoaciduria (renal Fanconi syndrome)

Screening

■newborn screen: prenatal diagnosis is possible (CVS or amniocyte

or DNA analysis)

■CT/MRI: usually normal, abnormal white matter, cortical and cere-

bellar atrophy, basal ganglia and brainstem abnormalities may be

present in patients with neurologic disease

Confirmatory Tests

■elevated erythrocyte galactose-1-phosphate (still elevated after

transfusion)

■decreased erythrocyte galactose-1-phosphate uridyl transferase

(GALT) activity in quantitative assay (NB: test invalid after