Beta-ketothiolase deficiency
ORPHA:134DiseaseAutosomal recessiveChildhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)42
Очень частый (80–99%)8
HP:0001941Acidosis
HP:0001942Metabolic acidosis
HP:0001945Fever
HP:0002013Vomiting
HP:0002149Hyperuricemia
HP:0002789Tachypnea
HP:0002919Ketonuria
HP:0011446Abnormality of higher mental function
Частый (30–79%)11
HP:0000741Apathy
HP:0001259Coma
HP:0001262Excessive daytime somnolence
HP:0001894Thrombocytosis
HP:0001944Dehydration
HP:0001974Leukocytosis
HP:0001987Hyperammonemia
HP:0001993Ketoacidosis
HP:0002014Diarrhea
HP:0004372Reduced consciousness/confusion
HP:0012735Cough
Периодический (5–29%)21
HP:0000713Agitation
HP:0000822Hypertension
HP:0000969Edema
HP:0000980Pallor
HP:0001250Seizure
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001265Hyporeflexia
HP:0001270Motor delay
HP:0001824Weight loss
HP:0001943Hypoglycemia
HP:0002039Anorexia
HP:0002151Increased circulating lactate concentration
HP:0002240Hepatomegaly
HP:0002615Hypotension
HP:0003074Hyperglycemia
HP:0007308Extrapyramidal dyskinesia
HP:0012523Oral aversion
HP:0012705Abnormal metabolic brain imaging by MRS
HP:0500001Body odor
Очень редкий (1–4%)2
HP:0001256Intellectual disability, mild
HP:0010864Intellectual disability, severe
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.72 | Australia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.43 | United States | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.98 | China | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.53 | Viet Nam | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)