|1:218,564 (EU data – see PHG report)
|Mitochondrial tri-functional protein (MTP) defect
|Typical age at clinical diagnosis
|Newborn to adulthood but usually 4 months – 7 months (UK data)
- LCHADD deficiency is a variable condition which may affect the heart, central nervous system, liver and eyes.
- If not diagnosed through screening, most patients with LCHAD deficiency become unwell in the first year of life; a few have problems in the first month.
- The most common problem is a low blood sugar (hypoglycaemia), which can lead to drowsiness, seizures or coma.
- Some children have heart disease (cardiomyopathy) or liver disease.
Minor infections can cause problems in these children.
- Fortunately, once the diagnosis has been made, these can usually be prevented by using the Emergency Regimen.
- In older patients, prolonged exercise may cause severe muscle pain and damage.
Many patients develop problems with the eyes and nerves (peripheral neuropathy) as adolescents or adults.
Treatment includes maintaining a high carbohydrate diet intake during infections in order to prevent metabolic crises. It is also necessary to avoid prolonged periods without food, to restrict long chain fat in the diet and to substitute medium chain fat.
Effectiveness of treatment:
Treatment is effective in preventing episodes of hypoglycaemia and it usually prevents cardiomyopathy. It may also reduce the frequency of muscle problems and slow the progression of retinopathy although it does not completely prevent either the retinopathy or the peripheral neuropathy.
|Positive predictive value
|50% (Mean EU data – see report)
|Screening index metabolite
|C16 hydroxyacyl carnitine
|Plasma acylcarnitines, urinary organic acids, DNA analysis