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GENATLAS PHENOTYPE

last update : 07-02-2018

Symbol	MTPD
Location	2p23.3
Name	mitochondrial trifunctional protein deficiency
Corresponding gene	HADHA , HADHB
Main clinical features	sudden unexplained infant death, cardiomyopathy, and/or skeletal myopathy some patients survive into adolescence and adulthood, with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy peripheral neuropathy, hypoparathyroidism, with inability to cope with metabolic stress
Genetic determination	autosomal recessive
Related entries	LCHAD
Function/system disorder
Type	disease

Gene product

Name	alpha or beta subunits of the mitochondrial trifunctional protein

Remark(s)

resulting in reduced activity of the three enzymes: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase implicated in mitochondrial beta-oxidation of fatty acids