| H01079 | |
| H number | H01079 |
| 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 |
| Network | nt06033(H01079) Glycine, serine and arginine metabolism |
| Gene | PHGDH [HSA:26227] [KO:K00058] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C50.6 ICD-10: E72.8 MeSH: C566618 OMIM: 601815 |
| Reference | PMID:21113737 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 PMID:19235232 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 PMID:19963421 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 |