Related Experiment Videos
Natural history of Hartnup disease
Insights
Hartnup disease is rare in Australian children, with most showing no symptoms and normal mental development. Growth may be slightly impacted, but clinical episodes are uncommon in diagnosed individuals.
Area of Science:
- Medical Genetics
- Pediatrics
- Metabolic Disorders
Background:
- Hartnup disease is an inherited metabolic disorder affecting amino acid transport.
- Early diagnosis through newborn screening is crucial for monitoring potential complications.
Purpose of the Study:
- To assess the clinical presentation and developmental outcomes of children diagnosed with Hartnup disease in Australia.
- To determine the incidence of Hartnup disease in New South Wales.
Main Methods:
- Retrospective follow-up of 12 diagnosed children and 3 affected siblings over up to 8 years.
- Monitoring clinical episodes, mental development, and growth parameters (height centiles).
- Analysis of urine screening data for incidence calculation.
Main Results:
- Only two clinical episodes possibly related to Hartnup disease were observed in the follow-up period.
- All children exhibited normal mental development.
- Slightly reduced height centiles were noted in 10 out of 12 children.
Conclusions:
- Hartnup disease symptoms are uncommon in Australian children, with normal mental development.
- Growth may be slightly affected, but severe clinical manifestations appear rare.
- The incidence of Hartnup disease in New South Wales is approximately 1 in 33,000 births.
Abstract:
Hartnup disease was diagnosed in 12 children and 3 of their 15 sibs in the course of routine urine screening of 6-week-old infants in New South Wales. These children were followed for up to 8 years, during which time there were only two clinical episodes which might be ascribed to Hartnup disease. The mental development of all the children was normal. 10 had height centiles less than the midparent height centiles, while 4 had centiles equal to or above the midparent centiles. The study shows that in children with Hartnup disease in Australia symptoms are very uncommon. Mental development is normal, and heights are possibly slightly below that expected. Hartnup disease has an incidence of approximately 1 in 33 000 in New South Wales.