What Causes HHH Syndrome?
2022-08-30
HHH syndrome is caused by impaired ornithine transport across the inner mitochondrial membrane due to mutations in SLC25A15 gene, which encodes for the mitochondrial ornithine carrier ORC1. What is Triple H blood test? Test Usage: HHH syndrome is a defect of Urea cycle metabolism inherited as an autosomal recessive disorder.Read More →