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Journal of Inherited Metabolic Disease

, Volume 13, Issue 1, pp 69–75 | Cite as

Carnitine deficiency with cardiomyopathy presenting as neonatal hydrops: Successful response to carnitine therapy

  • P. Steenhout
  • C. Elmer
  • A. Clercx
  • D. Blum
  • D. Gnat
  • S. van Erum
  • F. Vertongen
  • E. Vamos
Article

Summary

A small-for-date infant presented at birth with severe non-immune hydrops, cardiac failure, metabolic acidosis and hypoglycaemia. Ultrasonography disclosed a cardiomyopathy. Initial therapy consisting of artificial ventilation, inotropes and diuretics resulted in partial disappearance of oedema without significant improvement in cardiac function. Episodes of hypoglycaemia recurred despite continuous glucose influsions.

Total serum carnitine from cord blood was 1.65 nmoles/ml and was undetectable on day 20. Oraldl-carnitine supplements resulted in normoglycaemia, dramatic improvement in cardiac function and restoration of serum carnitine levels to normal values. The infant was thereafter maintained on carnitine therapy. Follow-up over 1 year showed moderate growth retardation and normal developmental milestones.

In order to account for such a severe neonatal presentation of carnitine deficiency, a combination of defective pre- and postnatal carnitine supply with an inborn error of carnitine handling is considered. The present case illustrates the need for evaluation of carnitine status in fetuses and neonates presenting with hydrops associated with cardiac failure.

Keywords

Cardiomyopathy Carnitine Metabolic Acidosis Cardiac Failure Inborn Error 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Kluwer Academic Publishers 1990

Authors and Affiliations

  • P. Steenhout
    • 1
  • C. Elmer
    • 1
  • A. Clercx
    • 1
  • D. Blum
    • 1
  • D. Gnat
    • 2
  • S. van Erum
    • 2
  • F. Vertongen
    • 2
  • E. Vamos
    • 3
  1. 1.Department of PediatricsUniversity Hospitals St-Pierre and BrugmannBrusselsBelgium
  2. 2.Department of Clinical ChemistryUniversity Hospitals St-Pierre and BrugmannBrusselsBelgium
  3. 3.Department of Medical GeneticsUniversity Hospitals St-Pierre and BrugmannBrusselsBelgium

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