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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ic
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE I C CDG-SYNDROME
603147
OMIM = Online Medalian Inheritance of Men
79320
1p22.3
rare
autosomal recessive
mutations in ALG6 gene
symptoms
ataxia
cerebellar atrophy or hypoplasia
enteropathy, protein-loosing
failure to thrive
hepatomegaly (large liver)
hyperopia
hypotonia
infections (severe or recurrent)
mental retardation
motor retardation
onset, infant
retinal or macular degeneration
seizures
strabismus
thromboembolism
laboratory finding
MRI, brain, abnormalities -
Coagulopathy/Coagulation factors
Transferrin abnormalserum
Transaminases increasedserum
Literature
Trefz FKBlau NPotential role of tetrahydrobiopterin in the treatment of maternal phenylketonuriaPediatrics11201566-15692003
Weber PScholl S, Baumgartner EROutcome in patients with profound biotinidase deficiency: relevance of newborn screeningDev Med Child Neurol467481-4842004
Krahe Jet al.Secondary rhabdomyolisis and acute renal failure in gastroenteritis with hypernatremic dehydrationMonatschr Kinderheilk1410303-3071993
Wanders RJAet al.Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cellsJ Inher Met Dis Suppl.18090-991995
Morad Met al.Vitamin B12 Deficiency in Persons with Intellectual Disability in a Vegetarian Residential Care CommunityScientificWorldJournal5058-612005
Taylor SIDiabetes mellitusThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.121843-8961995