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Health library/Lesch-Nyhan syndrome

Rare neurological disorders / RARE CONDITION

Lesch-Nyhan syndrome

Also known as: Choreoathetosis self-mutilation syndrome, Complete HPRT deficiency, Complete hypoxanthine-guanine phosphoribosyltransferase deficiency, Deficiency of guanine phosphoribosyltransferase, Deficiency of hypoxanthine phosphoribosyltransferase, HGPRT deficiency

Lesch-Nyhan syndrome affects purine metabolism and usually occurs in males. Excess uric acid accompanies movement and behavioral difficulties, including self-injury in some individuals.

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What you may notice

Symptoms can overlap with other conditions and vary between people.

  • Abnormal involuntary movements
  • Self-injury
  • Developmental difficulties
  • Kidney stones or joint problems

Understanding care

Clinical care may include metabolic, neurological and behavioral care with kidney and safety monitoring. A qualified clinician decides which investigations and options fit the individual situation.

When to seek help

Loss of skills or worsening movement needs prompt specialist review. New seizures, serious swallowing or breathing difficulty, or reduced consciousness requires urgent emergency care.

For severe breathing difficulty, collapse, suspected stroke, or another emergency, call local emergency services immediately. In India, call 112.

Read the medical sources

These sources support the educational article and offer more detail.

Educational reading · Updated 6 October 2026

Prepared from the linked sources. This summary has not had an independent clinician review. A qualified clinician can assess symptoms and explain which information applies to you.

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LITTLE PEOPLE. BIG FEELINGS.

It’s okay to have
a lot of questions.

A doctor visit or an unfamiliar health word can feel scary. You can ask a trusted grown-up to help you understand, one small question at a time.

01

Say how you feel.

“I feel worried” is a good place to start.

02

Ask for simple words.

“Can you explain that in a way I understand?”

03

Bring someone you trust.

A caring adult can help you ask and listen.

For children and their grown-ups. This illustration explains a conversation, not a diagnosis. An adult should seek qualified care for a child who is unwell.

Lesch-Nyhan syndrome — First AID health library