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.
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
No additional description.
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