Deficiencia de la 3-hidroxi-3-metilglutaril coenzima-A liasa como causa de severo daño neurológico.

Translated title of the contribution: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency as a cause of severe neurological damage

R. Dodelson de Kremer, R. I. Kelley, C. Depetris de Boldini, A. Paschini de Capra, L. Corbella, I. Givogri, A. Giner de Ayala, M. Albarenque

Research output: Contribution to journalArticlepeer-review

Abstract

This paper describes the first Argentine case of 3-hydroxy-3-methylglutaric aciduria, a genetic defect of ketogenesis and leucine catabolism step. At the age of 4 months, the patient presented a life-threatening episode of hypoglucemia, metabolic acidosis and hyperammonemia resembling Reye syndrome. The lack of urinary ketone bodies, normal levels of plasma aminoacids and normal urinary excretion of p-hydroxyphenolic acids, led us to look for a ketogenic defect. An abnormal profile of urinary organic acids detected by thin layer chromatography and later characterized and quantified by gas chromatography-mass spectrometry (Figs. 1, 2; Table 1), showed a marked increase in the acidic metabolites typical of the 3-hydroxy-3-methylglutaric aciduria: 3-hydroxy-3-methylglutaric, 3-methylglutaconic, 3-methylglutaric and 3-hydroxyisovaleric acids. The activity of 3-hydroxy-3-methylglutaryl coenzyme A lyase was absent in white cell pellets and between 2-5% of the control values in skin fibroblasts (Table 2). Treatment of the disorder, mainly restricted leucine or low-protein diet and addition of L-carnitine had no significant effect on the severe neurological injuries present since the first illness. MRI of the brain, at the age of 1 year and 8 months, showed images in T1 suggestive of marked cerebral atrophy and in T2 hyperintensive images predominating in the right frontal and posterior parietal areas and of the punctiform lesions in the basal ganglia, particularly in the heads of both caudate nuclei.(ABSTRACT TRUNCATED AT 250 WORDS)

Translated title of the contribution3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency as a cause of severe neurological damage
Original languageSpanish
Pages (from-to)30-36
Number of pages7
JournalMedicina
Volume52
Issue number1
StatePublished - 1992

ASJC Scopus subject areas

  • Medicine(all)

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