3-hydroxy-3-methylglutaric aciduria
ORPHA:20DiseaseAutosomal recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)54
Очень частый (80–99%)4
HP:0001942Metabolic acidosis
HP:0001958Nonketotic hypoglycemia
HP:0001987Hyperammonemia
HP:00033443-Methylglutaric aciduria
Частый (30–79%)17
HP:0000741Apathy
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001254Lethargy
HP:0001903Anemia
HP:0001988Recurrent hypoglycemia
HP:0002039Anorexia
HP:0002149Hyperuricemia
HP:0002151Increased circulating lactate concentration
HP:0002240Hepatomegaly
HP:0002353EEG abnormality
HP:0002572Episodic vomiting
HP:0002789Tachypnea
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0006561Lipid accumulation in hepatocytes
HP:0006582Reye syndrome-like episodes
HP:0008151Prolonged prothrombin time
Периодический (5–29%)22
HP:0002104Apnea
HP:0002342Intellectual disability, moderate
HP:0002521Hypsarrhythmia
HP:0002615Hypotension
HP:0002919Ketonuria
HP:0010864Intellectual disability, severe
HP:0012378Fatigue
HP:0000952Jaundice
HP:0000969Edema
HP:0000980Pallor
HP:0001256Intellectual disability, mild
HP:0001259Coma
HP:0001265Hyporeflexia
HP:0001298Encephalopathy
HP:0001336Myoclonus
HP:0001824Weight loss
HP:0001882Leukopenia
HP:0001894Thrombocytosis
HP:0001944Dehydration
HP:0001945Fever
HP:0001974Leukocytosis
HP:0002014Diarrhea
Очень редкий (1–4%)11
HP:0000252Microcephaly
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001260Dysarthria
HP:0001325Hypoglycemic coma
HP:0001644Dilated cardiomyopathy
HP:0001695Cardiac arrest
HP:0001735Acute pancreatitis
HP:0002045Hypothermia
HP:0002352Leukoencephalopathy
HP:0011099Spastic hemiparesis
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.8 | Portugal | Value and class |
| Prevalence at birth | <1 / 1 000 000 | — | United States | Class only |
| Prevalence at birth | <1 / 1 000 000 | — | China | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)