Isovaleric acidemia
ORPHA:33DiseaseAutosomal recessiveAdolescent, Adult, Childhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)2
HP:0001263Global developmental delay
HP:0001942Metabolic acidosis
Частый (30–79%)13
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001254Lethargy
HP:0001508Failure to thrive
HP:0001987Hyperammonemia
HP:0002013Vomiting
HP:0002919Ketonuria
HP:0003128Lactic acidosis
HP:0008872Feeding difficulties in infancy
HP:0031962Elevated serum anion gap
HP:00331113-hydroxyisovaleric aciduria
HP:0033447Elevated circulating isovalerylcarnitine concentration
Периодический (5–29%)11
HP:0000750Delayed speech and language development
HP:0001259Coma
HP:0001270Motor delay
HP:0001289Confusion
HP:0001310Dysmetria
HP:0001337Tremor
HP:0001735Acute pancreatitis
HP:0001824Weight loss
HP:0002045Hypothermia
HP:0002901Hypocalcemia
HP:0007018Attention deficit hyperactivity disorder
Очень редкий (1–4%)3
HP:0001994Renal Fanconi syndrome
HP:0002453Abnormal globus pallidus morphology
HP:0011675Arrhythmia
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.55 | Germany | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.28 | Australia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.63 | Italy | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.53 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)