AUH-Related 3-Methylglutaconic Aciduria is a rare disorder that affects mitochondrial function.
Former designation: 3-MGCA-1
Gene: AUH (AU RNA binding methylglutaconyl-CoA hydratase)
Enzyme affected: 3-methylglutaconyl-CoA hydratase (3-MGCH)
Location: mitochondrial matrix and inner mitochondrial membrane
Effect of mutation: unable to catabolize leucine
Inheritance: autosomal recessive
Key clinical findings:
(1) speech and language delay
(2) failure to thrive
(4) psychomotor retardation
(5) adult-onset leukoencephalopathy
(7) progressive spasticity and dystonia
(8) urine excretion of 3-methylglutaconic acid (3-MGA) and 3-methylglutaconate (3-MGC)
(1) metabolic acidosis
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