Description of the disease * EnglishPolish Pobierz sekcję do PDF 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 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl