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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

Coagulopathy/Coagulation factors

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

Metabolite	min	max	Norm. min	Norm. max	unit	specimen	agegroup
Albumin					decreased	serum
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