BIOCHEMICAL DEFECT

DIAGNOSIS

Gene
NT5C3 (AR)

Diagnostic Test
Urine Purines & Pyrimidines

Gene Test

Orphanet

SIGNS & SYMPTOMS

Neurological
- - -

Non-Neurological
Growth retardation, recurrent infections

THERAPY

Treatment
Uridine Supplements

Level of Evidence
1b

Clinical Practice
Standard of Care

Treatment Effect
Improves psychomotor development/IQ, behaviour,
seizure control & systemic manifestations

General Resources

Literature Resources

Patient Resources

OMIM

Guidelines

Cohort Study

Patient Organisations (Gene Test)

Gene Reviews

Reviews

Outcome Study

Patient Organisations (Orphanet)

Online Scriver

Orphanet

Report a non-working link

Pyrimidine 5-Nucleotidase Superactivity

Pyrimidine 5'nucleotidase superactivity leads to increased catabolic activity and reduced pyrimidine salvage, which causes a deficiency of pyrimidine nucleotides. Clinically patients exhibit developmental delay, seizures, ataxia, recurrent infections, severe language deficit and behavioural problems.

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