Aromatic L-amino acid decarboxylase deficiency
ORPHA:35708DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)38
Очень частый (80–99%)3
HP:0001263Global developmental delay
HP:0003785Decreased CSF homovanillic acid concentration
HP:0025455Decreased CSF 5-hydroxyindolacetic acid concentration
Частый (30–79%)14
HP:0000708Atypical behavior
HP:0000737Irritability
HP:0000975Hyperhidrosis
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001270Motor delay
HP:0001332Dystonia
HP:0001508Failure to thrive
HP:0002020Gastroesophageal reflux
HP:0002360Sleep abnormality
HP:0002421Poor head control
HP:0010553Oculogyric crisis
HP:0011968Feeding difficulties
Периодический (5–29%)18
HP:0000508Ptosis
HP:0000616Miosis
HP:0000729Autistic behavior
HP:0000870Increased circulating prolactin concentration
HP:0001260Dysarthria
HP:0001315Reduced tendon reflexes
HP:0001742Nasal congestion
HP:0001943Hypoglycemia
HP:0002015Dysphagia
HP:0002019Constipation
HP:0002307Drooling
HP:0002353EEG abnormality
HP:0002375Hypokinesia
HP:0002509Limb hypertonia
HP:0002615Hypotension
HP:0003487Babinski sign
HP:0004322Short stature
HP:0100660Dyskinesia
Очень редкий (1–4%)3
HP:0001337Tremor
HP:0002014Diarrhea
HP:0034392Joint contracture
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 140 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)