| METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (MECRCN) | |
| TANGO2; TANGO2-RELATED METABOLIC ENCEPHALOPATHY AND ARRHYTHMIAS | |
|
616878
OMIM = Online Mendelian Inheritance of Men | |
|
480864 | |
| Transport and Golgi organization protein 2 homolog | |
| very rare (21 cases) autosomal recessive mutation in the TANGO2 gene | |
| Laboratory findings | Dicarboxylic acids inc (urine) Ketone bodies (urine) inc (urine) Tetradecenoylcarnitine (C14:1) normal/inc (blood) Glutaric acid normal/inc (urine) Adipic acid normal/inc (urine) Ammonia inc (blood) Creatine kinase inc (serum) D-Glucose dec (serum) Decenedioic acid normal/inc (urine) L-Lactic acid inc (urine) L-Lactic acid inc (plasma) Myoglobin inc (urine) Sebacic acid normal/inc (urine) Suberic acid normal/inc (urine) Thyroid-stimulating hormone (TSH) inc (serum) Transaminases (ASAT/ALAT) inc (serum) |
| Symptoms | cardiac arrest hypothyroidism lactic acidosis rhabdomyolysis cardiac arrhythmia, dysrhythmia cerebral atrophy hypertonia, spasticity hypoglycemia intellectual disability/intellectual developmental disorder optic atrophy seizures ataxia cardiomyopathy coma developmental delay dysarthria dysphagia dystonia early death encephalopathy epilepsy gait disturbance hearing defect, deafness hemiparesis/hemiplegia/hemiparetic cerebral palsy hyperammonemia ketosis, ketoacidosis mental retardation microcephaly (<2 SD for age) muscle weakness neurologic defect or dysfunction onset, adolescent onset, childhood onset, infancy paresis renal failure, acute/chronic strokelike episodes |