Details of Disease | DrugMAP

General Information of Disease (ID: DISWOV3J)

Disease Name	Methylmalonate semialdehyde dehydrogenase deficiency
Synonyms	MMSDHD; MMSDH deficiency; developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency; developmental delay due to MMSDH deficiency; developmental delay due to ALDH6A1 deficiency; methylmalonate semialdehyde dehydrogenase deficiency
Disease Hierarchy	DISB7ID3: Inborn organic aciduria DISOGOR1: Inborn disorder of branched-chain amino acid metabolism DISWOV3J: Methylmalonate semialdehyde dehydrogenase deficiency
Disease Identifiers	MONDO ID MONDO_0013579 MESH ID C566402 UMLS CUI C3279840 OMIM ID 614105 MedGen ID 481470 Orphanet ID 289307

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALDH6A1	OT8LCZCT	Strong	Autosomal recessive	[1]
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References

1	Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2000 Jul;23(5):497-504. doi: 10.1023/a:1005616315087.