Belgian Genetic Tests database
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
| Name: |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
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| Description: |
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.
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| ORPHAcode: |
5
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| Synonyms: |
LCHAD deficiency
LCHADD
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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