Belgian Genetic Tests database
Carnitine-acylcarnitine translocase deficiency
| Name: |
Carnitine-acylcarnitine translocase deficiency
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| Description: |
Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.
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| ORPHAcode: |
159
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| Synonyms: |
CACT 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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