Abstract
Two Vietnamese siblings with an isolated deficiency of 3-methylcrotonyl coenzyme A carboxylase in leucocytes and culture fibroblasts are described. Both children excreted massive amounts of 3-methylcrotonylglycine and 3-hydroxyisovaleric acid. There was no in vivo or in vitro biochemical response to biotin. Apart from an attack of vomitting leading to subcoma in the elder sib four weeks after arrival in the Netherlands, the children were in good health. There were no signs of delayed mental development.
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Bartlett K, Gompertz D (1974) The specificity of glycine-N-acylase and acylglycine excretion in the organicacidaemias. Biochem Med 10:15–23
Bartlett K, Green A, Leonard JV, Ng H, Dale G (1981) Studies on inherited defects of biotin-dependent carboxylases in cultured human fibroblasts. J Inher Metab Dis 4:183–189
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
Eveleth PB, Tanner JM (1976) Worldwide Variation in Human Growth. Cambridge University Press, Cambridge
Feldman GL, Wolf B (1981) Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency. Clin Chim Acta 111:147–151
Finnie MDA, Cottral K, Seakins JWT, Snedden W (1976) Massive excretion of 2-oxoglutaric acid and 3-hydroxyisovaleric acid in a patient with a deficiency of 3-methylcrotonyl-CoA carboxylase. Clin Chim Acta 73:513–519
Gompertz D, Bartlett K, Blair D, Stern CMM (1973) Child with a defect in leucine metabolism associated with β-hydroxy-isovaleric aciduria and β-methylcrotonyl-glycinuria. Arch Dis Child 48:975–977
Goodman SI, Markey SP (1981) Diagnosis of Organic Acidemias by Gas Chromatography-Mass Spectrometry. Alan R Liss Inc, New York, pp 49–51
Kamerling JP, Brouwer M, Ketting D, Wadman SK (1979) Gas chromatography of urinary N-phenylacetylglutamine. J Chromatog 164:217–221
Keeton BR, Moosa A (1976) Organic aciduria. Treatable cause of floppy infant syndrome. Arch Dis Child 51:636–638
Lehnert W, Niederhoff H, Junker A, Saule H, Frasch W (1979) A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria. Eur J Pediatr 132:107–114
Leonard JV, Seakins JWT, Bartlett K, Hyde J, Wilson J, Clayton B (1981) Inherited disorders of 3-methylcrotonyl CoA carboxylation. Arch Dis Child 56:53–59
Majerus PW, Jacobs R, Smith MB, Morris HP (1968) The regulation of fatty acid biosynthesis in rat hepatomas. J Biol Chem 243: 3588–3595
Mellman WJ, Tedesco TA (1965) An improved assay of erythrocyte and leukocyte galactose-1-phosphate uridyl transferase: Stabilization of the enzyme by a thiol protective reagent. J Lab Clin Med 66:980–986
Munnich A, Saudubray JM, Ogier H, Coude FX, Marsac C, Roccichioli F, Labarthe JC, Cazenave C, Laugier J, Charpentier C, Frézal J (1981) Deficit multiple des carboxylases. Une maladie métabolique vitamino-dépendante curable par la biotine. Arch Fr Pédiatr 38:83–90
Teychenne PF, Walters I, Claveria LE, Calne DB, Price J, MacGillivary BB, Gompertz D (1976) The encephalopathic action of five-carbon-atom fatty acids in the rabbit. Clin Sci Mol Med 50:463–472
Wolf B (1980) Reassessment of biotin—responsiveness in “unresponsive” propionyl CoA carboxylase deficiency. J Pediatr 97:964–966
Wood HG, Barden RE (1977) Biotin enzymes. Ann Rev Biochem 46:385–413
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Beemer, F.A., Bartlett, K., Duran, M. et al. Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs. Eur J Pediatr 138, 351–354 (1982). https://doi.org/10.1007/BF00442517
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DOI: https://doi.org/10.1007/BF00442517