Гіпоінсулінемічна гіпоглікемія та гемігіпертрофія тіла
ORPHA:293964· ICD-10 Q87.3· Hypoinsulinemic hypoglycemia and body hemihypertrophy
Визначення(English summary)
Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Infancy, Neonatal