Skip to main content
Log in

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

  • Published:
Journal of Inherited Metabolic Disease

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Cederblad, G., Fahraeus, L. and Lindgren, K. Plasma carnitine and renal carnitine clearance during pregnancy.Am. J. Clin. Nutr. 44 (1986) 379–383

    Google Scholar 

  • Chapoy, P. R., Angelini, C., Brown, W. J., Stiff, J. E., Shug, A. L. and Cederbaum, S. D. Systemic carnitine deficiency. A treatable inherited lipid storage disease presenting as Reye's syndrome.N. Engl. J. Med. 303 (1980) 1389–1394

    Google Scholar 

  • Coates, P. M., Hale, D. E., Stanley, C. A. and Glasgow, A. M. Systemic carnitine deficiency simulating Reye syndrome.J. Pediatr. 105 (1984) 679

    Google Scholar 

  • El Khazen, N., Jauniaux, E., Dodion, J., Vamos, E., Rodesch, F., Wilkin, P. and Milaire, J. Evaluation échographique des anasarques foeto-placentaires non-immunitaires.J. Gynecol. Obstet. Biol. Reprod. 15 (1985) 87–97

    Google Scholar 

  • Engel, A. G. and Rebouche, C. J. Carnitine metabolism and inborn errors.J. Inher. Metab. Dis. 7 Suppl. 1 (1984) 38–43

    Google Scholar 

  • Eriksson, B. O., Lindstedt, S. and Nordin, I. Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts.Eur. J. Pediatr. 147 (1988) 662–663

    Google Scholar 

  • Glasgow, A. M., Eng, G. and Engel, A. G. Systemic carnitine deficiency simulating recurrent Reye syndrome.J. Pediatr. 96 (1980) 889

    Google Scholar 

  • Hale, D. E., Batshaw, M. L., Coates, P. M., Frerman, F. E., Goodman, S. I., Singh, I. and Stanley, C. A. Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.Pediatr. Res. 19 (1985) 666–670

    Google Scholar 

  • Holzgreve, W., Curry, C. J. R., Golbus, M. S., Callen, P. W., Filly, R. A. and Smith, J. C. Investigation of non-immune hydrops fetalis.Am. J. Obstet. Gynecol. 150 (1984) 805–812

    Google Scholar 

  • Kaiser, E. and Lohninger, A. Carnitine: its role in lung and heart disorders. Proceedings of a satellite symposium on the occasion of theCentral European Congress for Anesthesiology, Graz, Austria, September 13, 1985. Published by Karger ISBN 3-8055-4438-3

  • Lombes, A., Herve, F., Ogier, H., Pellet, A., Sidi, D., Villain, E., Kachaner, J., Charpentier, C., Paturneau-Jouas, M., Fardeau, M. and Saudubray, J. M. Myocardites primitives d'apparence idiopathique chez l'enfant. Place des étiologies métaboliques.Arch. Fr. Pédiatr. 44 (1987) 569–578

    Google Scholar 

  • Mares-Perlman, J. A., Farrell, P. M. and Gutcher, G. R. Changes in erythrocyte and plasma carnitine concentrations in preterm neonates.Am. J. Clin. Nutr. 43 (1986) 77–84

    Google Scholar 

  • Penn, D., Schmidt-Sommerfeld, E. and Pastcu, F. Decreased tissue carnitine concentration in newborn infants receiving total parenteral nutrition.J. Pediatr. 98 (1981) 976–978

    Google Scholar 

  • Roberton, M. R. C.Textbook of Neonatology, Churchill Livingstone, Edinburgh, London, Melbourne, New York, 1986, pp. 484–494

    Google Scholar 

  • Schmidt-Sommerfeld, E., Penn, D. and Wolf, H. Carnitine deficiency in premature infants receiving total parenteral nutrition: effect ofl-carnitine supplementation.J. Pediatr. 102 (1983) 931–935

    Google Scholar 

  • Shenat, J. P., Borum, P. R., Mohan, P. and Donlevy, S. C. Carnitine status at birth of newborn infants of varying gestation.Pediatr. Res. 17 (1983) 579–582

    Google Scholar 

  • Stanley, C. A. New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency.Adv. Pediatr. 34 (1987) 59–88

    Google Scholar 

  • Treem, W. R., Stanley, C. A., Finegolf, D. M., Hale, D. E. and Coates, P. M. Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle and fibroblasts.N. Engl. J. Med. 319 (1988) 1331–1336

    Google Scholar 

  • Tripp, M. E., Katchen, M. L., Peters, H. A., Gilbert, E. F., Arya, S., Hodach, R. J. and Shug, A. L. Systemic carnitine deficiency presenting as familial endocardial fibroelastosis, a treatable cardiomyopathy.N. Engl. J. Med. 305 (1981) 385–390

    Google Scholar 

  • Waber, L. J., Valle, D., Neill, C., Di Mauro, S. and Shug, A. I. Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport.J. Pediatr. 101 (1982) 700–705

    Google Scholar 

  • Winter, S., Szabo-Aczel, S., Curry, C. R. J., Hutchinson, H. T., Hogue, R. and Shug, A. L. Plasma carnitine deficiency — clinical observation in 51 pediatric patients.Am. J. Dis. Childh. 141 (1987) 660–665

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Steenhout, P., Elmer, C., Clercx, A. et al. Carnitine deficiency with cardiomyopathy presenting as neonatal hydrops: Successful response to carnitine therapy. J Inherit Metab Dis 13, 69–75 (1990). https://doi.org/10.1007/BF01799334

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01799334

Keywords

Navigation