Inborn errors of metabolism Disease
About Gene:
Inborn errors of metabolism is a rare genetic disorder. Patients with the disorder are unable to efficiently extract energy from food.
Number of Patients: 0
Sign and Symptoms:
- Fructose intolerance
- Galactosemia
- Maple syrup urine disease (MSUD)
- Phenyletouira
- Fatty acid oxidation defects
- Lysosomal storage disorders
- Mitochondrial disorder
Diagnosis:
(1) Medical history collection (2) Screening of amino acid, organic acid, and fatty acid metabolism disorders by tandem mass spectrometry
Preventions:
Treatment:
Symptomatic treatments are administrated based on circumstances