Summary

• 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.