KEGG   DISEASE: メチルマロン酸セミアルデヒド脱水素酵素欠損症
エントリ  
H02285                                                             

名称    
メチルマロン酸セミアルデヒド脱水素酵素欠損症
概要    
Methylmalonate semialdehyde dehydrogenase (MMSDH) deficiency is a rare autosomal recessive disorder with varied metabolite abnormalities, including accumulation of 3-hydroxyisobutyric, 3-hydroxypropionic, and methylmalonic acids, as well as beta-alanine. Reported clinical presentations vary from a mild or uneventful clinical course. Severe developmental delay may be present. Dysmorphic facial features and congenital brain dysgenesis with intracerebral calcifications have also been described. Mutations in the ALDH6A1 gene coding for MMSDH are associated with this disease.
カテゴリ  
先天性代謝異常症
階層分類  
ヒト疾患 [BR:jp08402]
 先天性代謝異常症
  先天性アミノ酸代謝異常症
   H02285  メチルマロン酸セミアルデヒド脱水素酵素欠損症
ICD-11 による疾患分類 [BR:jp08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H02285  メチルマロン酸セミアルデヒド脱水素酵素欠損症
関連パスウェイ
hsa00280  Valine, leucine and isoleucine degradation
hsa00410  beta-Alanine metabolism
hsa00640  Propanoate metabolism
ネットワーク
nt06024  Valine, leucine and isoleucine degradation
  エレメント
N00853  ALDH6A1 deficiency in valine degradation
病因遺伝子 
ALDH6A1 [HSA:4329] [KO:K00140]
リンク   
ICD-11: 5C50.DY
ICD-10: E71.1
MeSH: C566402
OMIM: 614105
文献    
  著者
Chambliss KL, Gray RG, Rylance G, Pollitt RJ, Gibson KM
  タイトル
Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency.
  雑誌
J Inherit Metab Dis 23:497-504 (2000)
DOI:10.1023/A:1005616315087
文献    
  著者
Marcadier JL, Smith AM, Pohl D, Schwartzentruber J, Al-Dirbashi OY, Majewski J, Ferdinandusse S, Wanders RJ, Bulman DE, Boycott KM, Chakraborty P, Geraghty MT
  タイトル
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
  雑誌
Orphanet J Rare Dis 8:98 (2013)
DOI:10.1186/1750-1172-8-98
文献    
  著者
Sass JO, Walter M, Shield JP, Atherton AM, Garg U, Scott D, Woods CG, Smith LD
  タイトル
3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.
  雑誌
J Inherit Metab Dis 35:437-42 (2012)
DOI:10.1007/s10545-011-9381-x
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