3-methylglutaconic aciduria type 1

Genetics

• autosomal recessive
• associated with defects in AUH

Clinical manifestations

• variable clinical phenotype, ranging from delayed speech development to severe psychomotor retardation, coma, failure to thrive, metabolic acidosis & dystonia

Laboratory

• 24 hour urine
  • urine 3-methylglutaconic acid levels are higher than those detected in other forms of 3-methylglutaconic aciduria
  • urine methylglutaric acid levels are usually only slightly elevated
  • urine 3-hydroxyisovaleric acid levels are high
• 3-methylglutaconyl-CoA hydratase in fibroblasts

More general terms

• 3-methylglutaconic aciduria

Database

• OMIM: https://mirror.omim.org/entry/250950