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GENATLAS PHENOTYPE

last update : 06-06-2019

Symbol	MGCA8
Location	2p13.1
Name	3-methylglutaconic aciduria, type VIII
Corresponding gene	HTRA2
Main clinical features	hypotonia, abnormal movements, respiratory insufficiency with apneic episodes, and lack of developmental progress, often with seizures brain imaging is variable, but may show progressive cerebral atrophy laboratory studies show increased serum lactate and 3-methylglutaconic aciduria, suggesting a mitochondrial defect early death
Genetic determination	autosomal recessive
Function/system disorder	metabolism/organic acid
	neurology
Type	disease

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