Abstract
A girl, now three years old, is reported, in whom at the age of 5 months the diagnosis of 3-HMG-CoA lyase deficiency was established. The characteristic excretion pattern consisted of 3-HMG, 3-CH3-glutaconic acid, 3-CH3-glutaric acid and 3-HIVA. Activity of 3-HMG-CoA lyase in leucocytes was very low. She had compensated metabolic acidosis and mild hypoglycemia.
Therapy with a leucine restricted diet decreased excretion of metabolites moderaterely but did not influence the tendency to metabolic acidosis.
Clinically the infant presented with macrocephaly. At the age of 3 years she is severely retarded. CAT scan revealed the picture of progressive demyelination of the white matter.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Clinkenbeard KD, Reed WD, Mooney RA, Lane MD (1975) Intracelluar localization of the 3-hydroxy-3-methylglutaryl coenzyme A cycle enzymes in liver. J Biol Chem 250:3108–3116
Coon MJ, Robinson WG, Bachhawat BK (1955) Enzymatic studies on the biological degradation of the branched chain amino acids. In: McElroy WD, Glass HB (eds) Amino acid metabolism. Johns Hopkins Press, Baltimore, pp 431–435
Dancis J, Levitz M, Miller S, Westall RG (1959) Maple syrup urine disease. Brit Med J 1:91–93
Duran M, Ketting D, Wadman Sk, Jakobs C, Schutgens RBH, Veder HA (1978) Organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: facts and artefacts. Clin Chim Acta 90:187–193
Duran M, Ruud BH, Schutgens RBH, Ketel A, Heymans H, Berutssen MWF, Ketting D, Wadman SK (1979) 3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency: postnatal management following prenatal diagnosis of maternal urine. J Pediat 95:1004–1007
Eldjarn L, Jellum E, Stokke O, Pande H, Waaler PE (1970) β-Hydroxyisovaleric aciduria and β-methylcrotonylglycinuria: a new inborn error of metabolism. Lancet II:521–522
Faull K, Bolton P, Halpern B, Hammond J, Danks DM, Hähnel R, Wilkinson SP, Wysocki SJ, Masters PL (1976) Patient with defect in leucine metabolism. New Engl J Med 294:1013
Faull KF, Bolton PD, Halpern B, Hammond J, Danks DM, (1976) The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria. Clin Chim Acta 73: 553–559
Gompertz D, Draffan GH, Watts JL, Hull D (1971) Biotinresponsive β-methylcrotonylglycinuria. Lancet II:22–24
Leonard JV, Seakins JWT, Griffin NK (1979) β-hydroxy-β-methylglutaricaciduria presenting as Reye's syndrome. Lancet I:680
Leupold D, Przyrembel H, Heymer B, Hilgarth R, Krüger C, Peiffer J, Bremer HJ (1974) Nicht ketotische Hyperglycinaemie. Klinik, Diätetik und pathologisch-anatomische Veränderungen. Z. Kinderheilkunde 116:95
Lynen F, Henning U, Bublitz C, Söplin-Rueff L (1958) Der chemische Mechanismus der Acetessigsäurebildung in der Leber. Biochem Z 330:269–295
Robinson BH, Sherwood WG, Lampty M, Lowden JA (1976) β-Methylglutaconic aciduria, a new disorder of leucine metabolism. Pediat Res 10:371
Schutgens RBH, Heymans H, Ketel A, Veder HA, Duran M, Ketting D, Wadman SK (1979) Lethal hypoglycemia in a child with a deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase. J Pediat 94:89–91
Snyderman SE (1961) Essential amino acid requirements of infants: leucine. Amer J Dis Child 102:157
Tanaka K, Budd MA, Efron ML, Isselbacher KJ (1966) Isovaleric acidemia: A new genetic defect of leucine metabolism. Proc Natl Acad Sci USA 56:236–242
Wysocki SJ, Hähnel R (1976) 3-Hydroxy-3-methylglutaric aciduria: Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A lyase. Clin Chimica Acta 71:349–351
Wysocki SJ, Hähnel R (1976) 3-Hydroxy-3-methylglutaric aciduria: 3-hydroxy-3-methylglutaryl-coenzyme A lyase levels in leucozytes. Clin Chimica Acta 73:373–375
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Leupold, D., Bojasch, M. & Jakobs, C. 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis. Eur J Pediatr 138, 73–76 (1982). https://doi.org/10.1007/BF00442334
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00442334