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Health library/Citrullinemia

Rare metabolic disorders / RARE CONDITION

Citrullinemia

Also known as: CIT, Citrullinuria

Citrullinemia comprises inherited disorders in which nitrogen waste can accumulate as toxic ammonia. Different types have different genetic causes and patterns of onset.

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What you may notice

Symptoms can overlap with other conditions and vary between people.

  • Vomiting
  • Poor feeding
  • Lethargy
  • Confusion or seizures

Understanding care

Clinical care may include metabolic testing to establish the type and a specialist monitoring and emergency plan. A qualified clinician decides which investigations and options fit the individual situation.

When to seek help

Poor feeding, repeated vomiting or unusual drowsiness in a person at risk needs urgent medical assessment. Confusion, seizures, breathing changes or collapse is an emergency; use an existing prescribed illness plan.

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.

Citrullinemia — First AID health library