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Article

Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.

American journal of human genetics - 1 Dec 2000

Klomp L W, de Koning T J, Malingré H E, van Beurden E A, Brink M, Opdam F L, Duran M, Jaeken J, Pineda M, Van Maldergem L, Poll-The B T, van den Berg I E, Berger R

Abstract excerpt

3-phosphoglycerate dehydrogenase (PHGDH) deficiency is a disorder of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures. To investigate the molecular basis for this disorder, the PHGDH mRNA sequence was characterized, and six patients from four families were analyzed for sequence variations. Five patients from three different families were homozygous for...

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Identifiers

PMID: 11055895
DOI: 10.1086/316886
PMCID: PMC1287916

Genes

PHGDH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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