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Summary

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ig
Synonym	CDG1G ALG12-CDG
OMIM	607143 OMIM = Online Medalian Inheritance of Men
Orphanet	79324
Gene locus	22q13.33
Summary	rare autosomal recessive mutations in the ALG12 gene developmental delay, low IgG, and genital hypoplasia should prompt CDG testing [Eklund et al. 2005]

symptoms

cardiomyopathy

dysmorphism

edema

failure to thrive

feeding difficulties, poor feeding

gastrointestinal dysmotility

genital hypoplasia

hypotonia

joint hypermobilty, dislocations

limb abnormalities, limb deformities

mental retardation

microcephaly (<2 SD for age)

motor retardation

onset, neonatal

prematurity

seizures

short stature

skeletal changes, skeletal abnormalities

strabismus

laboratory finding

Metabolite	min	max	Norm. min	Norm. max	unit	specimen	agegroup
Immunglobulin IgD					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
Hug G	et al.	Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II	N Engl J Med		325	0	1862	1991
Patterson MC	Platt F	Therapy of Niemann-Pick disease, type C	Biochim Biophys Acta		1685	0	77-82	2004
Tomoeda K	et al.	Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria	Mol Genet Metab		71	3	506-510	2000
McCormack PL	Goa KL	Miglustat	Drugs		63	22	2427-2434	2003
di Patti MC	et al.	Dominant mutants of ceruloplasmin impair the copper loading machinery in aceruloplasminemia	J Biol Chem		284	7	4545-4554	2009
Trefz FK	et al.	Unpublished results in 6 patients with isovaleric acidemia	unpublished		0	0		1995
Blau N	et al.	Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading	J Inherit Metab Dis		22	3	2316-220	1999