Rhabdomyolysis and Metabolic Myopathy
Gene: HADHB
The HADHA and HADHB genes encode the alpha and beta subunits of the mitochondrial trifunctional protein, respectively. The heterocomplex contains 4 alpha and 4 beta subunits and catalyzes 3 steps in the beta-oxidation of fatty acids, including the long-chain 3-hydroxyacyl-CoA dehydrogenase step. The beta subunit harbors the 3-ketoacyl-CoA thiolase activity.
Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death, infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy. Peripheral neuropathy also reported.
Well established gene-disease association.Created: 2 May 2022, 1 a.m. | Last Modified: 2 May 2022, 1 a.m.
Panel Version: 0.13556
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trifunctional protein deficiency, MIM# 609015
Publications
The heterooctameric mitochondrial trifunctional protein (MTP), composed of four α- and β-subunits harbours three enzymes that each perform a different function in mitochondrial fatty acid β-oxidation. MTP deficiency is a defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, LiteratureCreated: 21 Mar 2020, 8:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trifunctional protein deficiency MIM#609015
Publications
Gene: hadhb has been classified as Green List (High Evidence).
Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency 609015 to Trifunctional protein deficiency MIM#609015
Publications for gene: HADHB were set to
Tag treatable tag was added to gene: HADHB.
gene: HADHB was added gene: HADHB was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHB were set to Trifunctional protein deficiency 609015