[3-hydroxy-3-methylglutaric aciduria and recurrent Reye-like syndrome].

Article

[3-hydroxy-3-methylglutaric aciduria and recurrent Reye-like syndrome].

Revista de neurologia - 1 Jun 1998

Eirís J, Ribes A, Fernández-Prieto R, Rodríguez-García J, Rodríguez-Segade S, Castro-Gago M

Abstract excerpt

INTRODUCTION: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMG-CoA lyase) is an inborn error of ketogenesis and Leucine catabolism. HMG-CoA lyase catalyses the final step in leucine degradation, converting HMG-CoA to acetyl-CoA and acetoacetic acid. Clinical manifestations include hepa...

Topics

Acidosis
Adolescent
Apnea
Carnitine
Coma
Diagnosis, Differential
Fatty Liver
Female
Fibroblasts
Hepatomegaly
Humans
Hypoglycemia
Meglutol
Oxo-Acid-Lyases
Phenotype
Recurrence
Reye Syndrome

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