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Summary
METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (MECRCN)
TANGO2 TANGO2-RELATED METABOLIC ENCEPHALOPATHY AND ARRHYTHMIAS
616878
OMIM = Online Medalian Inheritance of Men
480864
22q11.21
very rare (21 cases)
autosomal recessive
mutation in the TANGO2 gene
symptoms
ataxia
cardiac arrest
cardiac arrhythmia, dysrhythmia
cardiomyopathy
coma
developmental delay
dysarthria
dysphagia
dystonia
early death
encephalopathy
epilepsy
gait disturbance
hearing defect, deafness
hemihypertrophy
hemiparesis/hemiplegia/hemiparetic cerebral palsy
hyperammonemia
hypoglycemia
hypothyroidism
intellectual disability/intellectual developmental disorder (ID/ IDD)
ketosis, ketoacidosis
lactic acidosis
mental retardation
microcephaly (<2 SD for age)
muscle weakness
onset, adolescent
onset, childhood
onset, infancy
optic atrophy
renal failure, acute/chronic
rhabdomyolysis
seizures
strokelike episodes
laboratory finding
Ammonia100.00800.00 +€mol/lblood
L-Lactic acid2.5017.00 mmol/lplasma
Creatine kinase200.00250000.00 U/lserum
D-Glucose0.000.00 mmol/lserum
Transaminases50.00200.00 U/lserum
Dicarboxylic acids0.000.00 mmol/mol creatinineurine
Myoglobin50.00100.00 ng/mlurine
Ketone bodies0.000.00 +/++urine
L-Lactic acid300.003000.00 mmol/mol Creaurine
Thyroid-stimulating hormone (TSH)6.0034.00 U/lserum
Glutaric acid0.0024.00 mmol/mol Creaurine
Adipic acid30.001500.00 mmol/mol Creaurine
Sebacic acid1.00700.00 mmol/mol Creaurine
Suberic acid10.00500.00 mmol/mol Creaurine
Decenedioic acid0.00500.00 mmol/mol Creaurine
Tetradecenoylcarnitine (C14:1)0.000.30 +€mol/lblood
Literature
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