KEGG   DISEASE: Methylmalonate semialdehyde dehydrogenase deficiency
Entry
H02285                      Disease                                

Name
Methylmalonate semialdehyde dehydrogenase deficiency
Description
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.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H02285  Methylmalonate semialdehyde dehydrogenase deficiency
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
     H02285  Methylmalonate semialdehyde dehydrogenase deficiency
Pathway
hsa00280 Valine, leucine and isoleucine degradation   
hsa00410 beta-Alanine metabolism   
hsa00640 Propanoate metabolism   
Network
nt06024  Valine, leucine and isoleucine degradation
  Element
N00853  ALDH6A1 deficiency in valine degradation
Gene
ALDH6A1 [HSA:4329] [KO:K00140]
Other DBs
ICD-11: 5C50.DY
ICD-10: E71.1
MeSH: C566402
OMIM: 614105
Reference
  Authors
Chambliss KL, Gray RG, Rylance G, Pollitt RJ, Gibson KM
  Title
Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency.
  Journal
J Inherit Metab Dis 23:497-504 (2000)
DOI:10.1023/A:1005616315087
Reference
  Authors
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
  Title
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
  Journal
Orphanet J Rare Dis 8:98 (2013)
DOI:10.1186/1750-1172-8-98
Reference
  Authors
Sass JO, Walter M, Shield JP, Atherton AM, Garg U, Scott D, Woods CG, Smith LD
  Title
3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.
  Journal
J Inherit Metab Dis 35:437-42 (2012)
DOI:10.1007/s10545-011-9381-x
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