HHH syndrome is due to defect in ?
Ans. is 'd' i.e., Ornithine transpoer Hyperornithinaemia, hyperammonaemia, homocitrullinuria (HHH) syndrome is an autosomal recessive disorder of ornithine transpo caused by mutations in gene SLC 25A15 encoding the ornithine transoer protein (ORNT1).There is defective activity of the ornithine transpoer across the mitochondrial membrane, which causes a functional deficiency of two mitochondrial enzymes:Ornithine transcarbomylase : Which catalyses the condensation of ornithine and carbamoylphosphate to citrulline.Ornithine-8-aminotransferase (OAT) : Which metabolizes the ornithine to .'-pyrroline-5-carboxylate and ultimately glutamate and proline.Ornithine accumulates in the cytoplasm and its deficiency in mitochondria causes a secondary urea cycle disorder and hyperammonemia.Carbamoylphosphate accumulates and undergoes allternate metabolism to form :Homocitrulline - Excreted in urineOrotic acidPlasma
Tryptophan metabolism
Histidine transpoer
Branched chain AA metabolism
Ornithine transpoer