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

Abstract：

: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 infusions. Total serum carnitine from cord blood was 1.65 nmoles/ml and was undetectable on day 20. Oral DL-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.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

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

doi

10.1007/BF01799334

subject

Has Abstract

pub_date

1990-01-01 00:00:00

pages

69-75

issue

1

eissn

0141-8955

issn

1573-2665

journal_volume

13

pub_type

杂志文章

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