Unit 3 Diseases and Disorders

Hyperammonaemia -1

Defective CPS-1 = ammonia (NH3) accumulates

Hyperammonaemia -2

Defective Ornithing transcarboxylase = Ammonia accumulates

• Orodic aciduria

Citrullinemia

Defective Argininosuccinate Synthetase = Citrulline accumulates

Arginosuccinic Aciduria

Defective Argininosuccinate Lyase = Argininosuccinate accumulates

Argininemia

Defective Arginase = Argine accumulates

NAG Synthase deficiency

CPS-I CANT function → No Urea Cycle

Ornithine Transporter Deficiency

Ornithine accumulates in the cytoplasm (and Carbamoyl Phosphate accumulates in the mitochondria)

• results in orotic acid

HHH Syndrome

Hyper-ornithinemia, Hyper-ammonemia, Homo-citrillinuria

NAG Deficiency symptoms

• increased ammonia in blood and urine

• increased glutamine

• decreased BUN

NAG Deficiency Treatnent

• IV administration of sodium benzoate, phenyllacetate

  • to condence with glycine and glutamate to form water soluble porducts which can easily be excreted

  • helps to easily remove trapped ammonia from body

NAG Deficiency Treatment - toxic hyperammonemia

Requires hemodialysis