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GENATLAS PHENOTYPE

last update : 07-02-2018

Symbol	LCHAD
Location	2p23.3
Name	long chain hydroxyacyl-CoA dehydrogenase deficiency
Corresponding gene	HADHA
Other symbol(s)	HELLP
Main clinical features	fasting induced non ketotic hypoglycemia, cardiomyopathy, chorioretinopathy, muscle weakness, also sudden infant death syndrome, including a progressive neuropathy with myopathy and myoglobinuria, mild trifunctional protein deficiency and HADHA defect acute fatty liver disease of pregnancy and the HELLP syndrome (hemolysis, elevated liver-enzyme levels, and a low platelet count) in women whose fetuses are later found to have a LCHAD deficiency
Genetic determination	autosomal recessive
Function/system disorder	metabolism/organic acid
Type	disease

Remark(s)

mutation of hydroxyacyl-CoA dehydrogenase (HADHA) isolated or associated with deficiency 3 oxoacyl-CoA thiolase (HADHB)