Inborn errors of purine–pyrimidine metabolism

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Inborn errors of purine–pyrimidine metabolism

Self-mutilation symptoms in LND

Inborn errors of purine–pyrimidine metabolism are a class ofinborn error of metabolism disorders specifically affectingpurine metabolism andpyrimidine metabolism. An example isLesch–Nyhan syndrome.

Urine tests may be of use in identifying some of these disorders.^[1]

References

↑Wevers RA, Engelke UF, Moolenaar SH, et al. (April 1999)."1H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism".Clin. Chem.45 (4):539–48.doi:10.1093/clinchem/45.4.539.PMID 10102915.Archived from the original on 2023-11-22. Retrieved2008-05-07.

Classification	ICD-10:E79 ICD-9-CM:277.2 MeSH:D011686

Anabolism	Adenylosuccinate lyase deficiency Adenosine Monophosphate Deaminase Deficiency type 1
Nucleotide salvage	Lesch–Nyhan syndrome/Hyperuricemia Adenine phosphoribosyltransferase deficiency
Catabolism	Adenosine deaminase deficiency Purine nucleoside phosphorylase deficiency Xanthinuria Gout Mitochondrial neurogastrointestinal encephalopathy syndrome

Anabolism	Orotic aciduria Miller syndrome
Catabolism	Dihydropyrimidine dehydrogenase deficiency

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