What you may notice
Symptoms can overlap with other conditions and vary between people.
- Enlarged head in infancy
- Low muscle tone
- Movement abnormalities
- Developmental problems after a crisis
Understanding care
Clinical care may include metabolic specialist assessment and an individualized nutrition and illness-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.
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.
