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- Schwartz, Oliver, et al. Show all 7 Authors
- Molecular and cellular probes 2019 v.44 pp. 14-20
- beta oxidation; enzymes; fatty acids; genes; genetic disorders; heart diseases; high-throughput nucleotide sequencing; metabolic diseases; mitochondria; muscles; muscular diseases; neonates; patients; peripheral nervous system diseases; phenotype; phenotypic variation; screening
- ... 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. Pathogenic variants in the MTP genes (HADHA and HADHB) cause MTP deficiency, a rare autosomal recessive metabolic disorder characterized by phenotypic heterogeneity ranging from severe, early-onset, ...