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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ih
CDG1H ALG8-CDG
608104
OMIM = Online Medalian Inheritance of Men
79325
11q14.1
very rare (<1:1000000)
autosomal recessive (?)
CDG-Ih clinical spectrum includes mild to severe hepato-intestinal problems with or without dysmorphic features depending on the genotype, but no obvious CNS defects [Schollen et al. 2004]
symptoms
anemia
ascites
ataxia
blindness, visual loss, visual impairment
diarrhea
dysmorphism
early death
edema
enteropathy, protein-loosing
failure to thrive
fetal akinesia/hypokinesia sequence
hepatomegaly (large liver)
hypotonia
mental retardation
oligohydramnion (maternal)
onset, infancy
tubulopathy
laboratory finding
Albumin decreasedserum
Coagulopathy/Coagulation factors decreasedplasma
Transferrin abnormalserum
IEF of serum transferrin, type 1 pattern abnormalserum
Literature
DiGeorge AMAuerbach VHLeucine-induced hypoglycemia: a review and speculationsAm J Med Sci2400792-8011960
Baumgartner MRet al.Delta(1)-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and prolineEur J Pediatr164131-362005
Buhrer Cet al.Fetal bradycardia at 28 weeks of gestation associated with cardiac glycogen phosphorylase b kinase deficiencyActa Paediatr92111352-13532003
McNeill Aet al.The neurological presentation of ceruloplasmin gene mutationsEur Neurol604200-2052008
Baumgartner MRet al.Delta(1)-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and prolineEur J Pediatr164131-362005
Scaglia Fet al.Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial diseasePediatrics1144925-9312004