| H00834 | |
| H番号 | H00834 |
| 名称 | グアニジノ酢酸メチルトランスフェラーゼ欠損症 |
| 概要 | Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive inborn error of creatine biosynthesis caused by a deficiency of hepatic guanidinoacetate methyltransferase, resulting in a lack of creatine and an accumulation of guanidinoacetic acid, the precursor of creatine. GAMT deficiency is characterized by developmental arrest or delay in the first few months of life with epilepsy and extrapyramidal movements as common features. Neurologic signs and symptoms are variable, and autistic spectrum disorders are sometimes seen in older affected individuals. Pathophysiology of GAMT deficiency is thought that the accumulation of guanidinoacetate can interact with neuronal GABAA receptors and cause the neurological dysfunction which underlies these symptoms. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | GAMT [HSA:2593] [KO:K00542] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | GAMT deficiency is included in Creatine deficiency syndrome. [DS:H00849] |
| リンク | ICD-11: 5C53.4 ICD-10: E72.8 MeSH: D050937 OMIM: 612736 |
| 文献 | PMID:18708003 著者 Kayser MA タイトル Inherited metabolic diseases in neurodevelopmental and neurobehavioral disorders. 雑誌 Semin Pediatr Neurol 15:127-31 (2008) DOI:10.1016/j.spen.2008.05.006 PMID:19289269 著者 Gordon N タイトル Guanidinoacetate methyltransferase deficiency (GAMT). 雑誌 Brain Dev 32:79-81 (2010) DOI:10.1016/j.braindev.2009.01.008 |