PhenomeGene — Human Disease Gene Website SeriesWDR83OS

Management

1. Regular Checkups
- Developmental assessments: Track progress in motor skills (sitting, walking), speech, and learning.
- Growth monitoring: Measure height, weight, and head regularly to ensure proper growth.
- Neurological evaluations: Watch for signs of seizures, muscle weakness, or behavioral changes.

2. Liver Health Monitoring
- Blood tests: Check bile acid levels and liver enzymes regularly, even if symptoms are mild.
- Ultrasound scans: Look for liver enlargement or gallstones.
- Itching management: If itching is severe, medications like ursodiol may help reduce bile acid levels.

3. Nutrition and Digestion Support
- Feeding support: Some children may need help with feeding, such as special diets or feeding tubes.
- Fat absorption: Monitor for signs of poor fat absorption (e.g., diarrhea, poor weight gain).
- Vitamin supplements: Fat-soluble vitamins (A, D, E, K) may be needed if absorption is poor.