What you may notice
Symptoms can overlap with other conditions and vary between people.
- Low muscle tone
- Poor feeding
- Seizures
- Hearing or vision impairment
Understanding care
Clinical care may include specialist metabolic assessment and individualized organ, nutritional and developmental support. 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.
