Literature summary for 1.2.1.27 extracted from

Sass, J.O.; Walter, M.; Shield, J.P.; Atherton, A.M.; Garg, U.; Scott, D.; Woods, C.G.; Smith, L.D.
3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase (2012), J. Inherit. Metab. Dis., 35, 437-442.

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Protein Variants

Protein Variants	Comment	Organism
P62S	missense mutation in a highly conserved amino acid of MSDH, patient has severe developmental delay associated with development of marked post-natal microcephaly, at 7 years static moderate learning difficulties and borderline microcephaly	Homo sapiens
S262Y	missense mutation in a highly conserved amino acid of MSDH, patient developed a febrile illness and died from a hepatoencephalopathy at 2 years of age	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q02252	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
methylmalonate semialdehyde + CoA + H2O + NAD+	-	Homo sapiens	propanoyl-CoA + HCO3- + NADH	-	?

Synonyms

Synonyms	Comment	Organism
Aldh6a1	-	Homo sapiens
methylmalonate semialdehyde dehydrogenase protein	-	Homo sapiens
MSDH	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	MSDH malfunction can be a reason for 3-hydroxyisobutyric aciduria, which is a disorder of valine metabolism	Homo sapiens
metabolism	MSDH enzyme is part of the catabolism pathway of L-valine	Homo sapiens

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Release 2023.1 (January 2023)