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Summary
METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION MECRCN
TANGO2
616878
OMIM = Online Medalian Inheritance of Men
---
22q11.21
rare
autosomal recessive
bi-allelic mutations in TANGO2 encoding transport and Golgi organization 2 homolo
symptoms
cardiac arrest
cardiac arrhythmia, dysrhythmia
cardiomyopathy
dystonia
encephalopathy
hyperammonemia
hypoglycemia
hypothyroidism
lactic acidosis
mental retardation
microcephaly
muscle weakness
rhabdomyolysis
seizures
laboratory finding
Ammonia0.000.00 increasedblood
Lactate0.000.00 increasedblood
Creatine kinase0.000.00 increasedserum
Glucose0.000.00 decreasedserum
Transaminases0.000.00 increasedserum
Dicarboxylic acids0.000.00 increasedurine
Myoglobin0.000.00 increasedurine
Ketone bodies0.000.00 increasedurine
Literature
Frank CGet al.Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type ILAm J Hum Genet751146-1502004
Garcia-Cazorla Aet al.Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspectsAnn Neurol591121-1272006
Weinstein Met al.CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic featuresAm J Med Genet A1362194-1972005