phosphoribosylpyrophosphate synthetase superactivity

An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result

An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset.

Signs and symptoms

• Epicanthus
• Peripheral axonal neuropathy
• Hearing impairment
• Strabismus
• Hypermetropia
• Short stature
• Hypotonia
• Short nose
• Sparse hair
• Recurrent infections

Also known as: PRPP synthetase superactivity; PRPS1 superactivity