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 ).

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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