Inborn errors of purine–pyrimidine metabolism

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Inborn errors of purine-pyrimidine metabolism
Classification and external resources
Specialty	Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value).
ICD-10	E79
ICD-9-CM	277.2
Patient UK	Inborn errors of purine–pyrimidine metabolism
MeSH	D011686
[[[d:Lua error in Module:Wikidata at line 863: attempt to index field 'wikibase' (a nil value).\|edit on Wikidata]]]

Inborn errors of purine–pyrimidine metabolism are a class of inborn error of metabolism disorders specifically affecting purine metabolism and pyrimidine metabolism. An example is Lesch–Nyhan syndrome.

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

References

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

v t e Index of inborn errors of metabolism
Description	Metabolism Enzymes and pathways: citric acid cycle enzymes pentose phosphate intermediates glycoproteins enzymes glycosaminoglycans proteoglycan enzymes phospholipid metabolism cholesterol and steroid intermediates sphingolipids enzymes eicosanoids enzymes amino acid intermediates urea cycle enzymes nucleotide intermediates
Disorders	Citric acid cycle and electron transport chain Glycoprotein Proteoglycan Fatty-acid Phospholipid Cholesterol and steroid Eicosanoid Amino acid Purine-pyrimidine Heme metabolism Symptoms and signs
Treatment	Drugs other

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