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Metadata
ID DOID:0111263
Name combined malonic and methylmalonic acidemia
Definition An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3.
https://www.ncbi.nlm.nih.gov/pubmed/21841779, https://www.ncbi.nlm.nih.gov/pubmed/9700595
Xrefs

GARD:10818

MESH:C580002

OMIM:614265

ORDO:289504

SNOMEDCT_US_2023_03_01:702365002

UMLS_CUI:C3280314

Subsets

DO_rare_slim

Synonyms

CMAMMA [EXACT]

combined malonic and methylmalonic aciduria [EXACT]

Parent Relationships

is_a organic acidemia

is_a autosomal recessive disease

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