Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood of hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and, frequently, cardiac involvement with arrhythmias and/or cardiomyopathy. Disease data Classification Disease Synonyms LCHAD deficiency LCHADD Niedobór LCHAD Niedobór dehydrogenazy długich łańcuchów 3-hydroksyacetylo-koenzymu A LCHADD Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency ORPHA code 5 OMIM code 609016 ICD10 code E71.3 ICD11 code 5C52.01 *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