Definition
A disorder of carnitine cycle and carnitine transport that is characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.
Definition
A disorder of carnitine cycle and carnitine transport that is characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.
Disease data
Classification
Disease
Synonyms
CDSP
CDSP
CUD
Defekt transportera karnityny
Deficyt wychwytu karnityny
Niedobór osoczowo-błonowego transportera karnityny
SPCD
CUD
Carnitine transporter defect
Carnitine uptake deficiency
Deficiency of plasma-membrane carnitine transporter
SPCD
ORPHA code
158
OMIM code
212140
ICD10 code
E71.3
ICD11 code
5C52.00
No additional description.
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