- Typically presents in the first few months of life with symptoms of failure to thrive, diarrhoea, and steatorrhoea.
- A rare disorder; diagnosis is often missed due to vague symptoms more common to diseases such as viral gastroenteritis or child abuse sequelae.
- If untreated, the disorder is progressive and can lead to neurological deterioration.
- When treated, sequelae such as cataracts, retinal degeneration, or ataxia may be prevented.
- Nutritional repletion, including a low-fat diet and ingestion of fat-soluble vitamins, is essential in management.
Last updated: Apr 12, 2013