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Article

Transient developmental delays in infants with Duarte-2 variant galactosemia.

Molecular genetics and metabolism - 1 Jan 2000

Waisbren Susan E, Tran Catherine, Demirbas Didem, Gubbels Cynthia S, Hsiao Margaret, Daesety Vikram, Berry Gerard T

Abstract excerpt

Duarte galactosemia is not classic galactosemia, but rather an example of biochemical variant galactosemia that results in approximately 25% residual activity of galactose-1-phosphate uridylyltransferase (GALT) enzyme. In contrast, classic galactosemia is associated with complete or near complete absence of GALT activity. While infants with classic galactosemia are placed on galactose-restricted diets to prevent...

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Identifiers

PMID: 34391645
DOI: 10.1016/j.ymgme.2021.07.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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