The adult galactosemic phenotype.

doi:10.1007/s10545-011-9372-y

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Article

The adult galactosemic phenotype.

Journal of inherited metabolic disease - 1 Mar 2012

Waisbren Susan E, Potter Nancy L, Gordon Catherine M, Green Robert C, Greenstein Patricia, Gubbels Cynthia S, Rubio-Gozalbo Estela, Schomer Donald, Welt Corrine, Anastasoaie Vera, D'Anna Kali, Gentile Jennifer, Guo Chao-Yu, Hecht Leah, Jackson Roberta, Jansma Bernadette M, Li Yijun, Lip Va, Miller David T, Murray Michael, Power Leslie, Quinn Nicolle, Rohr Frances, Shen Yiping, Skinder-Meredith Amy, Timmers Inge, Tunick Rachel, Wessel Ann, Wu Bai-Lin, Levy Harvey, Elsas Louis, Berry Gerard T

Abstract excerpt

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...

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Identifiers

PMID: 21779791
DOI: 10.1007/s10545-011-9372-y
PMCID: PMC3641771

Genes

GALT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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