KEGG DISEASE: HADH欠損症

DISEASE: HADH欠損症

エントリ

H01364

名称

HADH欠損症;
短鎖3ヒドロキシアシルCoA脱水素酵素欠損症

上位グループ

ミトコンドリアの脂肪酸酸化異常症 [DS:H00525]
二次性高アンモニア血症 [DS:H01400]
ミトコンドリア病 [DS:H01427]

概要

3-Hydroxyacyl-CoA dehydrogenase (HADH, SCHAD) deficiency is an autosomal recessive metabolic disorder, resulting from mutations in the HADH gene. HADH deficiency is one of the mitochondrial fatty acid oxidation disorders that has been the most recently described only in a few patients. The clinical phenotype of most patients that have been described is recurrent hypoglycemia associated with hyperinsulinism.

カテゴリ

先天性代謝異常症, ミトコンドリア病

階層分類

ICD-11 による疾患分類 [BR:jp08403]
05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   先天性代謝異常
    5C52  脂質代謝の先天性異常
     H01364  HADH欠損症
パスウェイに基づく疾患分類 [BR:jp08402]
脂質･糖脂質代謝
  nt06020  ミトコンドリアでのβ酸化
   H01364  HADH欠損症

パスウェイ

hsa00071

Fatty acid degradation

ネットワーク

nt06020 beta-Oxidation in mitochondria

病因遺伝子

HADH [HSA:3033] [KO:K00022]

リンク

ICD-11:

ICD-10:

MeSH:

OMIM:

文献

PMID:16176262

著者

Yang SY, He XY, Schulz H

タイトル

3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.

雑誌

FEBS J 272:4874-83 (2005)
DOI:10.1111/j.1742-4658.2005.04911.x

文献

PMID:21347589

著者

Martins E, Cardoso ML, Rodrigues E, Barbot C, Ramos A, Bennett MJ, Teles EL, Vilarinho L

タイトル

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.

雑誌

J Inherit Metab Dis 34:835-42 (2011)
DOI:10.1007/s10545-011-9287-7

文献

PMID:22579592

著者

Vilarinho L, Marques JS, Rocha H, Ramos A, Lopes L, Narayan SB, Bennett MJ

タイトル

Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening.

雑誌

Mol Genet Metab 106:277-80 (2012)
DOI:10.1016/j.ymgme.2012.04.005

» English version

All links

Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (3)   
   PubMed (3)   
All databases (8)   

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