3-methylglutaconic Aciduria, Type Ix; Mgca9

Description

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

TIMM50

Clinical Features

Top most frequent phenotypes and symptoms related to 3-methylglutaconic Aciduria, Type Ix; Mgca9

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Failure to thrive
Muscle weakness
Spasticity
Optic atrophy
Hypertonia
Arrhythmia

And another 11 symptoms. If you need more information about this disease we can help you.

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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
TIMM50. By Fulgent Genetics Fulgent Genetics in United States. TIMM50 Specificity 100 % Genes 100 %

Alternate names

3-methylglutaconic Aciduria, Type Ix; Mgca9 Is also known as ;3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; mga9.

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