Aciduria: 3-methylglutaconic type 1

[MIM 250 950]

(deficiency in 3-methylglutaconyl-CoA hydratase, deficiency in 3MG - CoA hydratase, AGM deficiency type I)

Extremely rare. Autosomal recessive disorder of the metabolism of leucine due to mutations of the AUH gene (chr 9) coding for the 3-methylglutaconyl-CoA hydratase.


Highly variable symptoms:

- speech delay

- metabolic acidosis and coma

- growth retardation, hepatomegaly

- dystonia, spastic paraplegia

- epilepsy, atrophy of the basal ganglia, microcephaly

Treatment: leucine-poor diet, and sometimes supplement of L-carnitine.


Anesthetic implications 

avoid prolonged fasting and protein catabolism; in case of parenteral nutrition, avoid the intake of leucine.


References:


Updated: December 2019