CONGENITALDISORDEROFGLYCOSYLATIONCDGIh

Summary

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ih
Synonym	CDG1H ALG8-CDG
OMIM	608104 OMIM = Online Medalian Inheritance of Men
Orphanet	79325
Gene locus	11q14.1
Summary	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, infant

tubulopathy

laboratory finding

Metabolite	min	max	Norm. min	Norm. max	unit	specimen	agegroup
Albumin					decreased	serum
Coagulopathy/Coagulation factors					decreased	plasma
Transferrin					abnormal	serum
IEF of serum transferrin, type 1 pattern					abnormal	serum

Literature

Author	Co-Author	Title	society	book	volume	number	pages	Year
DiGeorge AM	Auerbach VH	Leucine-induced hypoglycemia: a review and speculations	Am J Med Sci		240	0	792-801	1960
Baumgartner MR	et al.	Delta(1)-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline	Eur J Pediatr		164	1	31-36	2005
Buhrer C	et al.	Fetal bradycardia at 28 weeks of gestation associated with cardiac glycogen phosphorylase b kinase deficiency	Acta Paediatr		92	11	1352-1353	2003
McNeill A	et al.	The neurological presentation of ceruloplasmin gene mutations	Eur Neurol		60	4	200-205	2008
Baumgartner MR	et al.	Delta(1)-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline	Eur J Pediatr		164	1	31-36	2005
Scaglia F	et al.	Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease	Pediatrics		114	4	925-931	2004