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Systemic primary carnitine deficiency / Dietary supplements / Quaternary ammonium compounds / Carnitine / Fatty-acid metabolism disorder / Medical genetics / Cardiomyopathy / Carnitine-acylcarnitine translocase / Medicine / Health / Hepatology


Disease Name Carnitine uptake deficiency Alternate name(s) Acronym
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Document Date: 2014-08-08 19:16:40

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Company

FOD Family Support Group / CVS / OMIM Link Genetests Link Support Group / /

Facility

American College of Medical Genetics / /

MedicalCondition

lethargy / vomiting / cardiomyopathy / seizures / Inheritance General population incidence Ethnic differences Population Ethnic incidence Cardiomyopathy / Chronic muscle weakness / carnitine deficiency / coma / MS / Carnitine transporter deficiency SCD / hypoglycemia / Hypoketotic hypoglycemia / muscle weakness / /

Organization

American College of Medical Genetics / /

Position

Treatment Emergency Medical Treatment Physical phenotype Inheritance General / /

URL

http /

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