Abstract
A patient is described who was admitted with a condition similar to the Reye syndrome at the age of 9 months. Hypoglycemia, hyperammonemia, hepatomegaly, and lethargy were present. The plasma concentrations of free and acylcarnitine were extremely low and the urine contained excessive amounts of dicarboxylic acids. Extensive biochemical and histological investigations of biopsied liver and muscle led to the diagnosis of systemic carnitine deficiency. The patient was put on oral carnitine treatment, upon which he remained clinically well. A prolonged fasting test during this treatment gave abnormal results: there was no ketonemia, but an increase of ω-oxidation of fatty acids. In spite of the treatment the liver and muscle carnitine content remained below normal.
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Angelini C, Philippart M, Borrone C, Bresolin N, Cantini M, Luck S (1980) Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation. Ann Neurol 7:5–10
Bougnères PF, Saudubray JM, Marsac C, Bernard O, Odievre M, Girard J (1981) Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency. J Pediatr 98:742–746
Chapoy PR, Angelini C, Brown WJ, Stiff JE, Shug AL, Cederbaum SD (1980) Systemic carnitine deficiency. A treatable inherited lipid-storage disease presenting as Reye's syndrome. N Engl J Med 303: 1389–1394
Cornelio F, Di Donato S, Peluchetti D, Bizzi A, Bertagnolio B, D'Angelo A, Wiesmann U (1977) Fatal cases of lipid storage myopathy with carnitine deficiency. J Neurol Neurosurg Psychiatry 40:170–178
Engel AG, Banker BQ, Eiben RM (1977) Carnitine deficiency: clinical, morphological, and biochemical observations in a fatal case. J Neurol Neurosurg Psychiatry 40:313–322
Genuth SM, Hoppel CL (1979) Plasma and urinary carnitine in diabetic ketosis. Diabetes 28:1083–1087
Glasgow AM, Eng G, Engel AG (1980) Systemic carnitine deficiency simulating recurrent Reye syndrome. J Pediatr 96: 889–891
Gregersen N, Wintzensen H, Kølvraa S, Christensen E, Christensen MF, Brandt NJ, Rasmussen K (1982) C6-C10-Dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects. Pediatr Res 16:861–868
Hoppel CL, Genuth SM (1980) Carnitine metabolism in normal-weight and obese human subjects during fasting. Am J Physiol 238:E409-E415
Kamerling JP, Brouwer M, Ketting D, Wadman SK (1979) Gas chromatography of urinary N-phenylacetylglutamine. J Chromatogr 164:217–221
Karpati G, Carpenter S, Engel AG, Watters G, Allen J, Rothman S, Klassen G, Mamer OA (1975) The syndrome of systemic carnitine deficiency. Neurology 25:16–24
Mamer OA, Montgomery JA, Colle E (1980) Profiles in altered metabolism III. (Ω-1)-hydroxyacid excretion in a case of episodic hypoglycemia. Biomed Mass Spectrom 7:53–57
Mortensen PB, Gregersen N (1980) Medium-chain triglyceride medication as a pitfall in the diagnosis of non-ketotic C6-C10-dicarboxylic acidurias. Clin Chim Acta 103:33–37
Mortensen PB, Gregersen N (1981) The biological origin of ketotic dicarboxylic aciduria. In vivo and in vitro investigations of the ω-oxidation of C6-C10-monocarboxylic acids in unstarved, starved and diabetic rats. Biochim Biophys Acta 666:394–404
Mortensen PB, Gregersen N, Rasmussen K, Kølvraa S (1983) The β-oxidation of dicarboxylic acids in isolated mitochondria and peroxisomes. J Inherited Metab Dis 6 [suppl] 2:123–124
Niederwieser A, Steinmann B, Exner U, Neuheiser F, Redweik U, Wang M, Rampini S, Wendel U (1983) Multiple acyl-CoA dehydrogenation deficiency in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Helv Paediatr Acta 38:9–26
Pearson DJ, Tubbs PK, Chase JFA (1969) Carnitine and acylcarnitines. Methods Enzymol 14:1758–1771
Saudubray JM, Marsac C, Limal JM, Dumurgier E, Charpentier C, Ogier H, Coude FX (1981) Variation in plasma ketone bodies during a 24-hour fast in normal and in hypoglycemic children: relationship to age. J Pediatr 98:904–908
Scholte HR, Meyer AEFH, van Wijngaarden GK, Leenders KL (1979) Familial carnitine deficiency. A fatal case and subclinical state in a sister. J Neurol Sci 42:87–101
Scholte HR, Busch HFM, Barth PG, Beekman RP, Duran M, Przyrembel H, Roth B, Luyt-Houwen IEM (1983) Carnitine deficiency and respiratory chain blockade In: Scarlata G, Cerri C (eds) Mitochondrial Pathology in Muscle Diseases. Piccin Med Books, Padua, pp 215–228
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 Pediatr 94: 89–91
Stanley CA, Baker L (1976) Hyperinsulinism in infancy: diagnosis by demonstration of abnormal response to fasting hypoglycemia. Pediatrics 57:702–711
Teijema HL, van Gelderen HH, Giesberts MAH (1980) Hypoketosis as a cause of symptoms in childhood hypoglycemia. Eur J Pediatr 134:51–55
Tripp ME, Katcher ML, Peters HA, Gilbert EF, Arya S, Hodach RJ, Shug AL (1981) Sysmtemic carnitine deficiency presenting as familial endocardial fibroelastosis. A treatable cardiomyopathy. N Engl J Med 305:385–390
Van Hinsberg VWM, Veerkamp JH, van Moerkerk HTB (1978) An accurate and sensitive assay of long-chain fatty acid oxidation in human skeletal muscle. Biochem Med 20:256–266
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Duran, M., de Klerk, J.B.C., Wadman, S.K. et al. Systemic carnitine deficiency: Benefit of oral carnitine supplements vs. persisting biochemical abnormalities. Eur J Pediatr 142, 224–228 (1984). https://doi.org/10.1007/BF00442456
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DOI: https://doi.org/10.1007/BF00442456