3-methylglutaconic Aciduria, Type Ix; Mgca9
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 (OMIM ).
Genes related to 3-methylglutaconic Aciduria, Type Ix; Mgca9
Clinical FeaturesTop most frequent phenotypes and symptoms related to 3-methylglutaconic Aciduria, Type Ix; Mgca9
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Failure to thrive
- Muscle weakness
- Optic atrophy
Incidence and onset information— Not enough data available about incidence and published cases.
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3-methylglutaconic Aciduria, Type Ix; Mgca9 Recommended genes panels
|Panel Name, Specifity and genes Tested/covered|
By Fulgent Genetics Fulgent Genetics in United States.
3-methylglutaconic Aciduria, Type Ix; Mgca9 Is also known as ;3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; mga9.
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