HHH syndrome is caused by defect in:: (A) Ornithine permease, (B) Ornithine transcarbamyolase, (C) Arginase, (D) Argininosuccinase lyase
Answer is A. Hyperammonemia-Hyperornithinemia-Homocitrullinemia (HHH) Syndrome: autosomal recessive disorder Defect is in transpo system of ornithine from cytosol into mitochondria Accumulation of ornithine in the cytosol and a deficiency of ornithine inside mitochondria.