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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
mutation in the TANGO2 gene
symptoms
cardiac arrest
cardiac arrhythmia, dysrhythmia
cardiomyopathy
dystonia
encephalopathy
hyperammonemia
hypoglycemia
hypothyroidism
lactic acidosis
mental retardation
microcephaly (<2 SD for age)
muscle weakness
rhabdomyolysis
seizures
laboratory finding
Ammonia0.000.00 increasedblood
L-Lactic acid0.000.00 increasedblood
Creatine kinase0.000.00 increasedserum
D-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