Тяжка первинна триметиламінурія
ORPHA:468726· ICD-10 E88.8· Severe primary trimethylaminuria
Визначення(English summary)
A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals. While there are no additional signs and symptoms, the condition can have profound psychosocial consequences.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood, Infancy