Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: Report of two siblings

C. Catzeflis, C. Bachmann, D. E. Hale, P. M. Coates, U. Wiesmann, J. P. Colombo, F. Joris, G. Délèze

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

Two siblings are reported who were syptomatic in the neonatal period. The first died suddenly at 4 days of age after regurgitating a meal. The postmortem examination showed steatosis of the liver, kidney and muscle. In the second, medium-chain acyl-CoA dehydrogenase (MCAD) deficiency was diagnosed at 3 days of age with muscular hypotonia, vomiting, hyperammonaemia and mild acidosis. Thus disorders of fatty acid oxidation should also be considered in newborns. The biochemical work up indicates that in neonates, analysis of serum medium-chain fatty acids and of acyl and free carnitine are more likely to lead to a diagnosis than determining dicarboxylic acids alone in urine. Long-term treatment was effective and monitored by the acyl/free carnitine ratio.

Original languageEnglish (US)
Pages (from-to)577-581
Number of pages5
JournalEuropean Journal of Pediatrics
Volume149
Issue number8
DOIs
StatePublished - May 1990
Externally publishedYes

Fingerprint

Carnitine
Early Diagnosis
Hyperammonemia
Dicarboxylic Acids
Muscle Hypotonia
Fatty Liver
Acidosis
Nonesterified Fatty Acids
Vomiting
Meals
Autopsy
Fatty Acids
Urine
Kidney
Muscles
Serum
Medium chain acyl CoA dehydrogenase deficiency

Keywords

  • Fatty acid oxidation
  • Medium-chain acyl-CoA dehydrogenase deficiency
  • Organic aciduria
  • sudden infant death syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Catzeflis, C., Bachmann, C., Hale, D. E., Coates, P. M., Wiesmann, U., Colombo, J. P., ... Délèze, G. (1990). Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: Report of two siblings. European Journal of Pediatrics, 149(8), 577-581. https://doi.org/10.1007/BF01957697

Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency : Report of two siblings. / Catzeflis, C.; Bachmann, C.; Hale, D. E.; Coates, P. M.; Wiesmann, U.; Colombo, J. P.; Joris, F.; Délèze, G.

In: European Journal of Pediatrics, Vol. 149, No. 8, 05.1990, p. 577-581.

Research output: Contribution to journalArticle

Catzeflis, C, Bachmann, C, Hale, DE, Coates, PM, Wiesmann, U, Colombo, JP, Joris, F & Délèze, G 1990, 'Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: Report of two siblings', European Journal of Pediatrics, vol. 149, no. 8, pp. 577-581. https://doi.org/10.1007/BF01957697
Catzeflis, C. ; Bachmann, C. ; Hale, D. E. ; Coates, P. M. ; Wiesmann, U. ; Colombo, J. P. ; Joris, F. ; Délèze, G. / Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency : Report of two siblings. In: European Journal of Pediatrics. 1990 ; Vol. 149, No. 8. pp. 577-581.
@article{c0231e177b78457a968db6e2460fda9e,
title = "Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: Report of two siblings",
abstract = "Two siblings are reported who were syptomatic in the neonatal period. The first died suddenly at 4 days of age after regurgitating a meal. The postmortem examination showed steatosis of the liver, kidney and muscle. In the second, medium-chain acyl-CoA dehydrogenase (MCAD) deficiency was diagnosed at 3 days of age with muscular hypotonia, vomiting, hyperammonaemia and mild acidosis. Thus disorders of fatty acid oxidation should also be considered in newborns. The biochemical work up indicates that in neonates, analysis of serum medium-chain fatty acids and of acyl and free carnitine are more likely to lead to a diagnosis than determining dicarboxylic acids alone in urine. Long-term treatment was effective and monitored by the acyl/free carnitine ratio.",
keywords = "Fatty acid oxidation, Medium-chain acyl-CoA dehydrogenase deficiency, Organic aciduria, sudden infant death syndrome",
author = "C. Catzeflis and C. Bachmann and Hale, {D. E.} and Coates, {P. M.} and U. Wiesmann and Colombo, {J. P.} and F. Joris and G. D{\'e}l{\`e}ze",
year = "1990",
month = "5",
doi = "10.1007/BF01957697",
language = "English (US)",
volume = "149",
pages = "577--581",
journal = "European Journal of Pediatrics",
issn = "0340-6199",
publisher = "Springer Verlag",
number = "8",

}

TY - JOUR

T1 - Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency

T2 - Report of two siblings

AU - Catzeflis, C.

AU - Bachmann, C.

AU - Hale, D. E.

AU - Coates, P. M.

AU - Wiesmann, U.

AU - Colombo, J. P.

AU - Joris, F.

AU - Délèze, G.

PY - 1990/5

Y1 - 1990/5

N2 - Two siblings are reported who were syptomatic in the neonatal period. The first died suddenly at 4 days of age after regurgitating a meal. The postmortem examination showed steatosis of the liver, kidney and muscle. In the second, medium-chain acyl-CoA dehydrogenase (MCAD) deficiency was diagnosed at 3 days of age with muscular hypotonia, vomiting, hyperammonaemia and mild acidosis. Thus disorders of fatty acid oxidation should also be considered in newborns. The biochemical work up indicates that in neonates, analysis of serum medium-chain fatty acids and of acyl and free carnitine are more likely to lead to a diagnosis than determining dicarboxylic acids alone in urine. Long-term treatment was effective and monitored by the acyl/free carnitine ratio.

AB - Two siblings are reported who were syptomatic in the neonatal period. The first died suddenly at 4 days of age after regurgitating a meal. The postmortem examination showed steatosis of the liver, kidney and muscle. In the second, medium-chain acyl-CoA dehydrogenase (MCAD) deficiency was diagnosed at 3 days of age with muscular hypotonia, vomiting, hyperammonaemia and mild acidosis. Thus disorders of fatty acid oxidation should also be considered in newborns. The biochemical work up indicates that in neonates, analysis of serum medium-chain fatty acids and of acyl and free carnitine are more likely to lead to a diagnosis than determining dicarboxylic acids alone in urine. Long-term treatment was effective and monitored by the acyl/free carnitine ratio.

KW - Fatty acid oxidation

KW - Medium-chain acyl-CoA dehydrogenase deficiency

KW - Organic aciduria

KW - sudden infant death syndrome

UR - http://www.scopus.com/inward/record.url?scp=0025302523&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025302523&partnerID=8YFLogxK

U2 - 10.1007/BF01957697

DO - 10.1007/BF01957697

M3 - Article

C2 - 2347356

AN - SCOPUS:0025302523

VL - 149

SP - 577

EP - 581

JO - European Journal of Pediatrics

JF - European Journal of Pediatrics

SN - 0340-6199

IS - 8

ER -