KEGG DISEASE: 3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency

KEGG

DISEASE: 3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency

Entry

H01079                      Disease

Name

3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency;
PHGDH Deficiency

Description

3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is a rare autosomal recessive disorder caused by a defect in the synthesis of the amino acid L-serine characterized clinically by congenital microcephaly, psychomotor retardation, and infantile onset of intractable seizures. The biochemical abnormalities associated with this disorder are low concentrations of L-serine, D-serine, and glycine in cerebrospinal fluid (CSF) and plasma. Mutations have been identified in PHGDH, the gene encoding 3-PGDH.

Category

Inherited metabolic disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H01079  3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
  nt06033  Glycine, serine and arginine metabolism
   H01079  3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency

Pathway

Biosynthesis of amino acids

Glycine, serine and threonine metabolism

Network

nt06033 Glycine, serine and arginine metabolism

Gene

PHGDH [HSA:26227] [KO:K00058]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Tabatabaie L, Klomp LW, Rubio-Gozalbo ME, Spaapen LJ, Haagen AA, Dorland L, de Koning TJ

Title

Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency.

Journal

J Inherit Metab Dis 34:181-4 (2011)
DOI:10.1007/s10545-010-9249-5

Reference

Authors

Tabatabaie L, de Koning TJ, Geboers AJ, van den Berg IE, Berger R, Klomp LW

Title

Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.

Journal

Hum Mutat 30:749-56 (2009)
DOI:10.1002/humu.20934

Reference

Authors

Tabatabaie L, Klomp LW, Berger R, de Koning TJ

Title

L-serine synthesis in the central nervous system: a review on serine deficiency disorders.

Journal

Mol Genet Metab 99:256-62 (2010)
DOI:10.1016/j.ymgme.2009.10.012

LinkDB

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