Aciduria: 3-methylglutaconic type 1
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(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