KEGG DISEASE: Phosphoserine aminotransferase deficiency

KEGG

DISEASE: Phosphoserine aminotransferase deficiency

Entry

H01082                      Disease

Name

Phosphoserine aminotransferase deficiency

Description

Phosphoserine aminotransferase (PSAT) deficiency is a disorder of serine biosynthesis characterized biochemically by low plasma and CSF concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation. The biochemical and clinical features of PSAT deficiency shared some of the features of 3-PGDH deficiency [DS:H01079]. Mutations in the PSAT1 gene have been identified.

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
     H01082  Phosphoserine aminotransferase deficiency
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
  nt06033  Glycine, serine and arginine metabolism
   H01082  Phosphoserine aminotransferase deficiency

Pathway

Biosynthesis of amino acids

Glycine, serine and threonine metabolism

Vitamin B6 metabolism

Network

nt06033 Glycine, serine and arginine metabolism

Gene

PSAT1 [HSA:29968] [KO:K00831]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Hart CE, Race V, Achouri Y, Wiame E, Sharrard M, Olpin SE, Watkinson J, Bonham JR, Jaeken J, Matthijs G, Van Schaftingen E

Title

Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.

Journal

Am J Hum Genet 80:931-7 (2007)
DOI:10.1086/517888

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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