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Condition report · Metabolic

Purine and Pyrimidine Disorders

Inherited disorders in the making, recycling or breakdown of purines and pyrimidines, the building blocks of DNA. They range from kidney stones and gout to neurological disease, and some affect how certain cancer drugs are tolerated.

A condition report looks for rare variants known to cause the conditions it covers.

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The 7 conditions we analyse

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

X-linked recessive

Caused by variants in HPRT1; complete deficiency causes Lesch-Nyhan syndrome, while partial deficiency causes high uric acid, gout and kidney stones.

What a diagnosis changes

Knowing allows allopurinol to control uric acid and prevent kidney stones and kidney damage.

Genes analysed

Also known as

HPRT deficiency; HPRT1 deficiency; hypoxanthine-guanine phosphoribosyltransferase 1 deficiency

Includes 3 related subtypes ↓
  • hypoxanthine guanine phosphoribosyltransferase partial deficiency
  • Lesch-Nyhan phenotype with normal HGPRT
  • Lesch-Nyhan syndrome
MONDO:0016088Orphanet 206428MedGen 1852368

Adenine Phosphoribosyltransferase Deficiency

Autosomal recessive

Caused by variants in APRT, which leads to 2,8-dihydroxyadenine kidney stones and crystal kidney damage that is often missed or misdiagnosed.

What a diagnosis changes

Knowing allows treatment with allopurinol or febuxostat and high fluid intake, which can prevent kidney failure.

Genes analysed

Also known as

2,8-dihydroxyadenine urolithiasis; 2,8-dihydroxyadeninuria disease; APRT deficiency; APRTD; Dihydroxyadeninuria

MONDO:0013869OMIM 614723Orphanet 976MedGen 82772

Adenylosuccinate Lyase Deficiency

Autosomal recessive

Caused by variants in ADSL, which can cause developmental delay, seizures and autistic features.

What a diagnosis changes

Knowing can end a diagnostic search and guide seizure management.

Genes analysed

Also known as

adenylosuccinase deficiency; ADSL deficiency; ADSLD; inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorder; inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity; rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity

MONDO:0007068OMIM 103050Orphanet 46MedGen 78641

Hereditary Xanthinuria

Autosomal recessive

Caused by variants in XDH or MOCOS, which cause very low uric acid and can lead to xanthine kidney stones.

What a diagnosis changes

Knowing allows a high fluid intake and a low-purine diet to reduce the risk of stones.

Genes analysed

Also known as

classic xanthinuria; xanthic urolithiasis; xanthine stone disease

Includes 2 related subtypes ↓
  • xanthinuria type I
  • xanthinuria type II
MONDO:0018106Orphanet 3467MedGen 1830243

Phosphoribosylpyrophosphate Synthetase Superactivity

X-linked recessive

Caused by variants in PRPS1, which increase uric acid production and can cause early gout and kidney stones, sometimes with hearing loss.

What a diagnosis changes

Knowing allows allopurinol treatment to control uric acid.

Genes analysed

Also known as

gout, PRPS-related, X-linked recessive; phosphoribosylpyrophosphate synthetase superactivity, X-linked recessive; PRPP synthetase superactivity; PRPS1 superactivity

Includes 2 related subtypes ↓
  • mild phosphoribosylpyrophosphate synthetase superactivity
  • severe phosphoribosylpyrophosphate synthetase superactivity
MONDO:0010395OMIM 300661Orphanet 3222MedGen 370358

Dihydropyrimidine Dehydrogenase Deficiency

Autosomal recessive

Caused by variants in DPYD; it can cause neurological problems in children and, even when silent, a high risk of severe toxicity from fluoropyrimidine chemotherapy (5-fluorouracil, capecitabine).

What a diagnosis changes

Knowing allows doctors to reduce the dose or choose another treatment before fluoropyrimidine chemotherapy.

Genes analysed

Also known as

dihydrouracil dehydrogenase deficiency; DYPD deficiency; familial pyrimidinaemia; familial pyrimidinemia; hereditary thymine-uraciluria; thymine-uracilurea

MONDO:0010130OMIM 274270Orphanet 1675MedGen 409522

Dihydropyrimidinase Deficiency

Autosomal recessive

Caused by variants in DPYS, which can range from no symptoms to neurological problems and also increases the risk of fluoropyrimidine toxicity.

What a diagnosis changes

Knowing alerts doctors to the risk of toxicity from fluoropyrimidine chemotherapy.

Genes analysed

Also known as

DPYSD

MONDO:0009111OMIM 222748Orphanet 38874MedGen 83353

Other metabolic conditions

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