Phosphoribosylpyrophosphate synthetase deficiency
Overview
Phosphoribosylpyrophosphate synthetase deficiency: A rare disorder where an enzyme (Phosphoribosylpyrophosphate synthetase) deficiency causes mental retardation and hypouricemia.
Symptoms
* Hypouricemia * Mental retardation * Hypsarrhythmia
Causes
Mental retardation