Rapid diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method

Wanders, R.J.; Zoeters, P.H.; Schutgens, R.B.; de Klerk, J.B.; Duran, M.; Wadman, S.K.; van Sprang, F.J.; Hemmes, A.M.; Voorbrood, B.S.

Clinica Chimica Acta; International Journal of Clinical Chemistry 189(3): 327-334


ISSN/ISBN: 0009-8981
PMID: 2225463
DOI: 10.1016/0009-8981(90)90314-i
Accession: 041171051

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Patients with 3-hydroxy-3-methylglutaric aciduria due to a deficiency of 3-hydroxy-3-methylglutaryl Coenzyme A lyase usually present with a life-threatening crisis of hypoglycemia, metabolic acidosis and hyperammonemia. Diagnosis of this inborn error of leucine degradation is usually based upon gas-chromatographic analysis of organic acids in a patient's urine. In this paper we describe a simple spectrophotometric method allowing the activity of HMG-CoA lyase to be measured in leukocytes or platelets within a few hours, thus contributing to a rapid, unequivocal diagnosis and subsequent treatment. The validity of the method was established by demonstrating a deficient activity of HMG-CoA lyase in two patients with 3-hydroxy-3-methylglutaric aciduria. Furthermore, using this method, heterozygote detection can be done with great reliability.