Definition
LCHAD deficiency is a metabolic disease characterized by long-chain 3-hydroxyacyl-CoA dehydrogenase enzyme deficiency, accompanied by hypoketotic hypoglycemia and liver failure.
Symptoms
- Hypoketotic hypoglycemia
- Liver failure
- Rhabdomyolysis
- Retinopathy
Reasons
HADHA gene mutation.
Diagnosis
Newborn screening, genetic testing.
Treatment
Dietary modification, MCT oil.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of metabolic crisis, emergency services should be consulted.
This page is for general information purposes only.