" /> 3-methylglutaconic aciduria, type iv - CISMeF





Preferred Label : 3-methylglutaconic aciduria, type iv;

Symbol : MGCA4;

CISMeF acronym : MGA4; MGCA4;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : MGA4; Mga, type iv;

Description : The category of 3-methylglutaconic aciduria type IV (MGCA4) represents a heterogeneous unclassified group of patients who share mild or intermittent urinary excretion of 3-methylglutaconic acid. MGCA excretion is a nonspecific finding observed in many other disorders caused by defects in mitochondrial energy metabolism (Gunay-Aygun, 2005). For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (250950);

Inheritance : Autosomal recessive;

Prefixed ID : 250951;

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24/05/2025


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