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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIh
CDG2H COG8-CDG
611182
OMIM = Online Medalian Inheritance of Men
95428
16q22.1
rare
autosomal recessive
mutation in the gene encoding COG8
symptoms
ataxia
bleeding tendencies, hemorrhages
cerebellar atrophy or hypoplasia
encephalopathy
hypotonia
infections (severe or recurrent)
mental retardation
motor retardation
progressive neurologic defect
seizures
strabismus
laboratory finding
Transaminases increasedserum
Creatine kinase increasedserum
Coagulopathy/Coagulation factors abnormalplasma
Sialotransferrins (isoelectrofocussing)0.000.00 increasedserumall
Literature
Leonard JVet al.Mitochondrial phosphoenolpyruvate carboxykinase deficiencyEur J Pediatr1503198-1991991
Schilsky MLWilson disease: new insights into pathogenesis, diagnosis, and future therapyCurr Gastroenterol Rep7126-312005
Pons RFord B, Chiriboga CA, Clayton PT, Hinton V, Hyland K, Sharma R, De Vivo DCAromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosisNeurology6271058-10652004
Ting CNet al.Phosphoenolpyruvate carboxykinase (GTP): characterization of the human PCK1 gene and localization distal to MODY on chromosome 20Genomics163698-7061993