Medical Archive

Gout

Genetics

Treatment

Abnormalities in purine salvage

Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) Deficiency

“Lesch-Nyhan disease (LND)”

Pathogenesis

X-linked recessive
deficiency of HGPRT
Hypoxanthine & uric acid accumulation

Clinical features

• Delayed milestones & hypotonia in infancy
• Early childhood
  • Intellectual disability
  • Extrapyramidal symptoms (eg, dystonia, chorea)
  • Pyramidal symptoms (eg, spasticity, hyperreflexia)
  • Self-mutilation (eg, biting of the fingers and hands, banging of the head and limbs)
• Gouty arthritis & obstructive nephropathy in late, untreated disease.

Adenine Phosphoribosyltransferase(APRT) Deficiency (Dihydroxyadeninuria)

Disorders Linked to Purine Nucleotide Synthesis

Phosphoribosylpyrophosphate(PRPP) Synthetase Superactivity and Deficiency

Adenylosuccinase Lyase Deficiency (Succinylpurinuria)

Aminoimidazole Carboxamide Ribotide (AICAR) Transformylase/Inosine Monophosphate (IMP) Cyclohydrolase Deficiency

Disorders Resulting From Abnormalities in Purine Catabolism

Myoadenylate Deaminase Deficiency (Muscle Adenosine Monophosphate Deaminase Deficiency)

Adenosine Deaminase Deficiency

See chapter 152.1

Purine Nucleoside Phosphorylase Deficiency

See chapter 152.2

Xanthine Oxidoreductase Deficiency (Hereditary Xanthinuria/Molybdenum Cofactor Deficiency)

Disorders of Pyrimidine Metabolism

Uridine Monophosphate Synthase Type 1 Deficiency (Hereditary Orotic Aciduria)

Dihydroorotate Dehydrogenase Deficiency (Miller Syndrome)

Dihydropyrimidine Dehydrogenase Deficiency (Thymine-Uraciluria, Pyrimidinuria)

Dihydropyrimidinase Deficiency (Dihydropyrimidinuria)

Deficiency of ?-Ureidopropionase (N -Carbamyl?-Amino Aciduria)

Pyrimidine 5?-Nucleotidase Deficiency

Overactive Cytosolic 5?-Nucleotidase (Pyrimidine Nucleotide Depletion)

Thymidine Phosphorylase Deficiency (Mitochondrial Neurogastrointestinal Encephalomyopathy)

Thymidine Kinase 2 Deficiency