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Article

Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.

Journal of inherited metabolic disease - 1 Jan 1995

Sommer M, Gathof B S, Podskarbi T, Giugliani R, Kleinlein B, Shin Y S

Abstract excerpt

Classical galactosaemia, deficiency of galactose-1-phosphate uridyltransferase (GALT), is characterized by acute symptoms of hepatomegaly, jaundice, sepsis, cataracts and growth retardation. Treatment with dietary galactose restriction corrects these complications immediately; however, most of th...

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Source

Identifiers

PMID: 8598637
DOI: 10.1007/BF02436001

Genes

GALT
GALP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8598637-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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