Fatal infantile lactic acidosis with methylmalonic aciduria
ORPHA:17DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)64
Облигатный (100%)2
HP:0002912Methylmalonic acidemia
HP:0012120Methylmalonic aciduria
Очень частый (80–99%)5
HP:0001263Global developmental delay
HP:00035353-Methylglutaconic aciduria
HP:0008947Floppy infant
HP:0012379Abnormal enzyme/coenzyme activity
HP:0012751Abnormal basal ganglia MRI signal intensity
Частый (30–79%)16
HP:0001249Intellectual disability
HP:0001298Encephalopathy
HP:0001397Hepatic steatosis
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0002059Cerebral atrophy
HP:0002151Increased circulating lactate concentration
HP:0002240Hepatomegaly
HP:0002490Increased CSF lactate
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003128Lactic acidosis
HP:0003202Skeletal muscle atrophy
HP:0008347Decreased activity of mitochondrial complex IV
HP:0011923Decreased activity of mitochondrial complex I
HP:0011924Decreased activity of mitochondrial complex III
HP:0011968Feeding difficulties
Периодический (5–29%)30
HP:0000252Microcephaly
HP:0000407Sensorineural hearing impairment
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000718Aggressive behavior
HP:0000736Short attention span
HP:0000975Hyperhidrosis
HP:0001250Seizure
HP:0001266Choreoathetosis
HP:0001276Hypertonia
HP:0001332Dystonia
HP:0001336Myoclonus
HP:0001371Flexion contracture
HP:0001639Hypertrophic cardiomyopathy
HP:0001943Hypoglycemia
HP:0002013Vomiting
HP:0002020Gastroesophageal reflux
HP:0002045Hypothermia
HP:0002098Respiratory distress
HP:0002104Apnea
HP:0002205Recurrent respiratory infections
HP:0002317Unsteady gait
HP:0002352Leukoencephalopathy
HP:0002360Sleep abnormality
HP:0002487Hyperkinetic movements
HP:0003200Ragged-red muscle fibers
HP:0003201Rhabdomyolysis
HP:0003557Increased variability in muscle fiber diameter
HP:0012087Abnormal mitochondrial shape
HP:0012240Increased intramyocellular lipid droplets
Очень редкий (1–4%)11
HP:0000047Hypospadias
HP:0000202Orofacial cleft
HP:0001643Patent ductus arteriosus
HP:0001655Patent foramen ovale
HP:0001680Coarctation of aorta
HP:0003097Short femur
HP:0003219Ethylmalonic aciduria
HP:0004742Abnormal renal collecting system morphology
HP:0005792Short humerus
HP:0010442Polydactyly
HP:0011611Interrupted aortic arch
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)