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Summary
DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT, OF INFANCY PDMI
606176
OMIM = Online Medalian Inheritance of Men
99885
7p1311p15.511p15.1
rare
autosomal dominant
symptoms
hyperglycemia
hypotonia
ketosis, ketoacidosis
metabolic acidosis
onset, infancy
onset, neonatal
ptosis (drooping eyelid)
seizures
small for gestational age (SGA), intrauterine growth retardation (IUGR)
laboratory finding
EEG abnormalities -
D-Glucose increasedblood
Literature
Mueller T,et al.Congenital secretory diarrhoea caused by activating germline mutations in GUCY2CGut6581306-13132016
Foulquier Fet al.A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formationHum Mol Genet167717-7302007
Reynders Eet al.Golgi function and dysfunction in the first COG4-deficient CDG type II patientHum Mol Genet18173244-32562009
Koelker SHoffmann GF, Okun JGCongenital glutamine deficiency with glutamine synthetase mutationsN Engl J Med954101093-10942006
Kranz Cet al.COG8 deficiency causes new congenital disorder of glycosylation type IIhHum Mol Genet167731-7412007
Martinez-Duncker Iet al.Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporterBlood10572671-26762005
Fuwa K,et al.Japanese neonate with congenital chloride diarrhea caused by SLC26A3 mutationPediatr Int57111-132015
Willig TBet al.Macrothrombocytopenia with abnormal demarcation membranes in megakaryocytes and neutropenia with a complete lack of sialyl-Lewis-X antigen in leukocytes--a new syndrome?Blood973826-8282001
Dechant MJ,et al.Follow-up of a child with congenital chloride diarrhoea caused by a novel mutationActa Paediatr1016256-2592012