Fructose-1,6-bisphosphatase deficiency
ORPHA:348DiseaseAutosomal recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)34
Очень частый (80–99%)4
HP:0001942Metabolic acidosis
HP:0001943Hypoglycemia
HP:0003128Lactic acidosis
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)5
HP:0002013Vomiting
HP:0002014Diarrhea
HP:0002149Hyperuricemia
HP:0003162Fasting hypoglycemia
HP:0004913Intermittent lactic acidemia
Периодический (5–29%)24
HP:0000737Irritability
HP:0000980Pallor
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001259Coma
HP:0001262Excessive daytime somnolence
HP:0001397Hepatic steatosis
HP:0001649Tachycardia
HP:0001946Ketosis
HP:0001998Neonatal hypoglycemia
HP:0002094Dyspnea
HP:0002098Respiratory distress
HP:0002119Ventriculomegaly
HP:0002240Hepatomegaly
HP:0002329Drowsiness
HP:0002876Episodic tachypnea
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003265Neonatal hyperbilirubinemia
HP:0004372Reduced consciousness/confusion
HP:0004879Intermittent hyperventilation
HP:0005949Apneic episodes in infancy
HP:0006582Reye syndrome-like episodes
HP:0040301Increased urinary glycerol
Очень редкий (1–4%)1
HP:0003348Hyperalaninemia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.67 | Italy | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)