Systemic primary carnitine deficiency disease
MONDO:0008919Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.
Also known as: CDSP, CUD, Carnitine deficiency, Carnitine transporter defect, Carnitine uptake deficiency, SPCD, carnitine transporter deficiency, carnitine uptake defect
1 clinical trial for this condition and its sub-types.
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Disease
(680)
Metabolic disease
(233)
Inherited lipid metabolism disorder
(189)
Hereditary disease
(176)
Inborn errors of metabolism
(45)
Human disease
(14)
Inherited fatty acid metabolism disorder
(7)
Inborn disorder of amino acid metabolism
(4)
Disorder of fatty acid and ketone body metabolism
(3)
Disease of genetic or genomic mechanism
(2)