Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV

P. D. Maaswinkel-Mooy; B. J. Poorthuis; H. H. van Gelderen; J. J. van de Kamp

doi:10.1136/adc.62.10.1066

Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV

P. D. Maaswinkel-Mooy
, B. J. Poorthuis
, H. H. van Gelderen
, J. J. van de Kamp

Research output: Contribution to journal › Comment/Letter to the editor › Academic

Abstract

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

Original language	English
Pages (from-to)	1066-1067
Journal	Archives of disease in childhood
Volume	62
Issue number	10
DOIs	https://doi.org/10.1136/adc.62.10.1066
Publication status	Published - 1987

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title = "Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV",

abstract = "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",

author = "Maaswinkel-Mooy, \{P. D.\} and Poorthuis, \{B. J.\} and \{van Gelderen\}, \{H. H.\} and \{van de Kamp\}, \{J. J.\}",

year = "1987",

doi = "10.1136/adc.62.10.1066",

language = "English",

volume = "62",

pages = "1066--1067",

journal = "Archives of disease in childhood",

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T1 - Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV

AU - Maaswinkel-Mooy, P. D.

AU - Poorthuis, B. J.

AU - van Gelderen, H. H.

AU - van de Kamp, J. J.

PY - 1987

Y1 - 1987

N2 - 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

AB - 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

U2 - 10.1136/adc.62.10.1066

DO - 10.1136/adc.62.10.1066

M3 - Comment/Letter to the editor

C2 - 3479053

SN - 0003-9888

VL - 62

SP - 1066

EP - 1067

JO - Archives of disease in childhood

JF - Archives of disease in childhood

IS - 10

ER -

Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV

Abstract

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