The adult galactosemic phenotype.

ABSTRACT:

Background

Classic galactosemia is an autosomal recessive disorder due to galactose-1-phosphate uridyltransferase (GALT) deficiency. Newborn screening and early treatment do not completely prevent tremor, speech deficits, and diminished IQ in both sexes and premature ovarian insufficiency (POI) in women. Data on how individuals with galactosemia fare as adults will improve our ability to predict disease progression.

Methods

Thirty-three adults (mean age = 32.6 ± 11.7 years; range = 18-59) with classic galactosemia, confirmed by genotype and undetectable GALT enzyme activity, were evaluated. Analyses assessed associations among age, genotype, clinical features and laboratory measures.

Results

The sample included 17 men and 16 women. Subjects exhibited cataracts (21%),

SUBMITTER: Waisbren SE 

PROVIDER: S-EPMC3641771 | biostudies-literature | 2012 Mar

REPOSITORIES: biostudies-literature