| HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA (HHH-SYNDROME) | |
| ORNITHINE TRANSLOCASE DEFICIENCY | |
|
238970
OMIM = Online Mendelian Inheritance of Men | |
|
415 | |
| mitochondrial ornithine transporter 1 | |
| rare (<1:2000000, < 100 patients) autosomal recessive mutation in the SLC25A15 gene Adult presentation of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome has rarely been described [Silfverberg T et al. 2018, Filosto M et al. 2013] | |
| Laboratory findings | Ammonia inc (blood) Hippuric acid normal/inc (urine) Homocitrulline inc (urine) Ornithine inc (plasma) Orotic acid normal/inc (urine) 2-Aminopiperid-2-one inc (urine) bleeding time dec (blood) Citrulline inc (urine) Creatine normal/dec (plasma) Glutamine inc (plasma) L-Lactic acid normal/inc (blood) L-Lactic acid normal/inc (urine) L-Lysine inc (urine) Lactate/Pyruvate ratio normal/inc (urine) Ornithine inc (urine) Transaminases (ASAT/ALAT) normal/inc (serum) Uracil inc (urine) Urea normal/dec (serum) |
| Symptoms | lens opacities altered consciousness, consciousness disturbance ataxia coma developmental delay encephalopathy feeding, protein aversion or intolerance liver failure liver involvement or dysfunction seizures spastic diplegia/quadriplegia/tetraplegia spastic paraplegia strokelike episodes temperature instability vomiting apnea behavior, hyperactive, restless Coagulopathy/Coagulation factors Encephalopathic crisis, acute episodic course (clinical symptoms) failure to thrive feeding difficulties, poor feeding growth retardation, poor growth hepatomegaly (large liver) hyperammonemia hypothermia hypotonia lactic acidosis lethargy, drowsiness, apathy mental retardation night blindness onset, adolescent onset, childhood onset, infancy onset, neonatal paraparesis/paraplegia paresis photophobia or photosensitive defect in light-exposed area respiratory distress tachypnea, hyperpnea, dyspnea, hyperventilation |