Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV

A 3 year old boy developed an unusually mild form of glycogen storage disease type IV. Metabolic investigations showed severe abnormalities of fatty acid and carnitine metabolism. A muscle carnitine deficiency was found. Treatment with L-carnitine orally led to a notable improvement in muscle streng...

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Veröffentlicht in:	Archives of disease in childhood 1987-10, Vol.62 (10), p.1066-1067
Hauptverfasser:	Maaswinkel-Mooy, P D, Poorthuis, B J, van Gelderen, H H, van de Kamp, J J
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Carbohydrates (enzymatic deficiencies). Glycogenosis Carnitine - deficiency Carnitine - therapeutic use Dicarboxylic Acids - urine Errors of metabolism Glycogen Storage Disease - metabolism Glycogen Storage Disease Type IV - complications Glycogen Storage Disease Type IV - metabolism Humans Infant Male Medical sciences Metabolic diseases Muscle Hypotonia - etiology Muscle Hypotonia - therapy
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Beschreibung
Zusammenfassung:	A 3 year old boy developed an unusually mild form of glycogen storage disease type IV. Metabolic investigations showed severe abnormalities of fatty acid and carnitine metabolism. A muscle carnitine deficiency was found. Treatment with L-carnitine orally led to a notable improvement in muscle strength.
ISSN:	0003-9888 1468-2044
DOI:	10.1136/adc.62.10.1066