The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa.

ABSTRACT:

Background

The objective of this study was to document the clinical, laboratory and genetic features of galactosemia in patients from the Cape Town metropolitan region.

Methods

Diagnoses were based on thin layer chromatography for galactosuria/galactosemia and assays of erythrocyte galactose-1-phosphate uridyltransferase (GALT) and galactokinase activities. Patients were screened for the common S135L and Q188R transferase gene mutations, using PCR-based assays. Screening for the S135L mutation in black newborns was used to estimate the carrier rate for galactosemia in black South Africans.

Results

A positive diagnosis of galactosemia was made in 17 patients between the years 1980 to 2001. All had very low or absent galactose-1-phosphate uridyltransferase (GALT) activi

SUBMITTER: Henderson H 

PROVIDER: S-EPMC126267 | biostudies-literature | 2002 Sep

REPOSITORIES: biostudies-literature