AUH-Related 3-Methylglutaconic Aciduria is a rare disorder that affects mitochondrial function.

Former designation: 3-MGCA-1


Chromosome: 9q22.31

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

(3) microcephaly

(4) psychomotor retardation

(5) adult-onset leukoencephalopathy

(6) dementia

(7) progressive spasticity and dystonia

(8) urine excretion of 3-methylglutaconic acid (3-MGA) and 3-methylglutaconate (3-MGC)


Variable findings:

(1) metabolic acidosis

(2) hypoglycemia

(3) seizures

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