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Chapter: Paediatrics: Inherited metabolic disease

Paediatrics: Disorders of nucleotide metabolism

A miscellaneous group of disorders characterized by abnormalities in enzymes responsible for metabolism and removal of the purine and pyrim-idine components of proteins and amino acids.

Disorders of nucleotide metabolism

 

A miscellaneous group of disorders characterized by abnormalities in enzymes responsible for metabolism and removal of the purine and pyrim-idine components of proteins and amino acids.

 

Classification of disorders of nucleotide metabolism

 

Disorders of purine metabolism

 

   Lesch–Nyhan syndrome

 

   Gout

 

   Renal lithiasis (adenine phosphoribosyltransferase (APRT) deficiency)

 

   Xanthinuria (xanthine oxidase deficiency)

 

Disorders of pyrimidine metabolism

 

   Type I and II orotic aciduria

 

   Ornithine transcarbamylase deficiency

 

Lesch–Nyhan syndrome

 

X-linked recessive. Due to a deficiency in hypoxanthine–guanine phospho-ribosyltransferase (HPRT) leading to the formation of excessive uric acid.

Children are normal at birth and symptoms and signs develop in the first few months. Classic clinical features include:

·Severe neurodevelopmental impairment.

 

Behavioural problems including self-mutilative biting of fingers and lips.

 

Spastic CP.

 

Choreoathetosis.

 

Uric acid urinary/renal stone development.

 

Megaloblastic anaemia.

 

Short stature.

 

Vomiting.

 

Biochemical analysis demonstrates increased plasma and urinary uric acid levels. Molecular genetic testing for mutations in the HPRT gene is available.

 

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