European Journal of Pediatrics

, Volume 139, Issue 1, pp 56–59 | Cite as

Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers

I. Clinical, metabolical, and biochemical findings
  • W. Lehnert
  • U. Wendel
  • S. Lindenmaier
  • N. Böhm
Original Investigations

Abstract

Two male siblings suffering from a severe form of glutaric aciduria type II were studied. One patient died within one hour after birth, the other at the age of five days. Both patients presented with respiratory distress soon after birth. They had a variety of congenital morphologic abnormalities. One patient's outstanding “sweaty-feet” odour on the second day of life led to organic acid analysis of urine revealing massive lactic, glutaric, and ethylmalonic aciduria along with a high excretion of various other carboxylic acids and glycine conjugates of the branched chain carboxylic acids. The pattern of metabolites in serum and urine as well as results of degradation studies with various substrates in cultured fibroblasts were consistent with a defect in multiple acyl-CoA dehydrogenation.

The morphological abnormalities are presented in a subsequent paper.

Key words

Glutaric aciduria type II Multiple acyl-CoA dehydrogenase deficiency Organic aciduria 

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References

  1. 1.
    Christensen E: Personal communicationGoogle Scholar
  2. 2.
    Dusheiko G, Kew CM, Joffe BJ, Lewin JR, Path FF, Mantagos S, Tanaka K (1979) Recurrent hypoglycemia associated with glutaric aciduria type II in an adult. N Engl J Med 301:1405–1409Google Scholar
  3. 3.
    Goodman SI, McCabe ERB, Fennessey PV, Mace JW (1980) Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; Possible inherited deficiency of an electron transfer flavoprotein. Pediat Res 14:12–17Google Scholar
  4. 4.
    Gregersen N, Kølvraa S, Rasmussen K, Christensen E, Brand NJ, Ebbesen F, Hansen FH (1980) Biochemical studies in a patient with defects in the metabolism of acyl-CoA and Sacosine: Another possible case of glutaric aciduria type II. J Inher Metab Dis 3:67–72Google Scholar
  5. 5.
    Lehnert W, Schuchmann L, Urbánek R, Niederhoff H, Böhm N (1978) Excretion of 2-Methyl-3-oxovaleric acid in propionic acidemia. Eur J Pediatr 128:197–205Google Scholar
  6. 6.
    Mantagos S, Genel M, Tanaka K (1979) Ethylmalonic-adipic aciduria. J Clin Invest 64:1580–1589Google Scholar
  7. 7.
    McCance RA, Strangeways WMB (1954) Protein catabolism and oxygen consumption during starvation in infants, young adults and old man. Br J Nutr 8:21–32Google Scholar
  8. 8.
    Przyrembel H, Wendel U, Becker K, Bremer HJ, Bruinvis L, Ketting D, Wadman SK (1976) Glutaric aciduria type II: Report on a previously undescribed metabolic disorder. Clin Chim Acta 66: 227–239Google Scholar
  9. 9.
    Rhead W, Mantagos S, Tanaka K (1980) Glutaric aciduria type II: in vitro studies on substrate oxidation, acyl-CoA dehydrogenases, and electron-transferring flavoprotein in cultured skin fibroblasts. Pediatr Res 14:1339–1342Google Scholar
  10. 10.
    Ruzicka FJ, Beinert H (1975) A new iron-sulfur flavoprotein of the mitochondrial electron transfer system. The entrance point of the fatty acyl dehydrogenation pathway? Biochim Biophys Res Comm 66:622–632Google Scholar
  11. 11.
    Ruzicka FJ, Beinert H (1977) A new iron-sulfur flavoprotein of the respiratory chain. A component of the fatty acid β-oxidation pathway. J Biol Chem 252:8440–8445Google Scholar
  12. 12.
    Shelley HJ (1964) Carbohydrate reserves in the newborn infant. Brit Med J I:273–275Google Scholar
  13. 13.
    Sweetman L, Nyhan WL, Trauner DA, Merritt TA, Singh M (1980) Glutaric acidura type II. J Pediatr 96:1020–1026Google Scholar
  14. 14.
    Tanaka K, Budd MA, Efron ML, Isselbacher KJ (1966) Isovaleric acidemia: A new genetic defect of leucine metabolism. Proc Natl Acad Sci (USA) 56:236–242Google Scholar
  15. 15.
    Wendel U, Wöhler W, Goedde HW, Langenbeck U, Passarge E, Rüdiger HW (1973) Rapid diagnosis of maple syrup urine disease (branched chain ketonuria) by micro-enzyme assay in leucocytes and fibroblasts. Clin Chim Acta 45:433–440Google Scholar
  16. 16.
    Wendel U (1980) Prenatal detection of defects in propionate metabolism. Clin Chim Acta 108:475–477Google Scholar

Copyright information

© Springer-Verlag 1982

Authors and Affiliations

  • W. Lehnert
    • 1
  • U. Wendel
    • 2
  • S. Lindenmaier
    • 1
  • N. Böhm
    • 3
  1. 1.Universitäts-KinderklinikFreiburg
  2. 2.Universitäts-Kinderklinik CDüsseldorf
  3. 3.Pathologisches Institut der UniversitätFreiburgGermany

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