3‐Methylglutaconic aciduria: A marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a ‘new’ type (‘type 4’)

Summary The Mendelian disorder known as 3‐methylgutaconic aciduria (McKusick 250950) gives evidence of allelic and locus heterogeneity. Type 1 has a mild clinical phenotype and confirmed 3‐methylgutaconyl‐CoA hydratase deficiency; inheritance is autosomal recessive. Other forms have major clinical m...

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