3-Methylglutaconic Aciduria, Type Ix (MGCA9)

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Disease Ontology 12 DOID:0070002 OMIM 57 617698 PS250950 MeSH 44 D008661

Orphanet 59 ORPHA505216 MedGen 42 C4540171 CN510468

OMIM : ⁵⁷ MGCA9 is an autosomal recessive disorder characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria, suggestive of a mitochondrial defect (summary by Shahrour et al., 2017). For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950). (617698)

MalaCards based summary : 3-Methylglutaconic Aciduria, Type Ix, is also known as 3-methylglutaconic aciduria type 9. An important gene associated with 3-Methylglutaconic Aciduria, Type Ix is TIMM50 (Translocase Of Inner Mitochondrial Membrane 50). Related phenotypes are muscular hypotonia and muscle weakness

Disease Ontology : ¹² A 3-methylglutaconic aciduria that has material basis in homozygous mutation in the TIMM50 gene on chromosome 19q13.

UniProtKB/Swiss-Prot : ⁷⁴ 3-methylglutaconic aciduria 9: An autosomal recessive disease characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria.

Clinical features from OMIM:

617698

Search Clinical Trials , NIH Clinical Center for 3-Methylglutaconic Aciduria, Type Ix

Search GEO for disease gene expression data for 3-Methylglutaconic Aciduria, Type Ix.