CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa; CDG1AA

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa; CDG1AA?

Accepted Answer

very rare

autosomal recessive

mutation in the NUS1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 617082

Question 3

Which enzymes are involved?

Accepted Answer

Dehydrodolichyl diphosphate synthase complex subunit NUS1

Disease	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa; CDG1AA
Synonym	CDG1AA; NUS1-CDG
OMIM	617082 OMIM = Online Mendelian Inheritance of Men
Orphanet	442835
Protein (UniProt)	Dehydrodolichyl diphosphate synthase complex subunit NUS1
Gene locus	6q22.1
ICD	G40.4
Summary	very rare autosomal recessive mutation in the NUS1 gene
Laboratory findings
Symptoms	blindness, visual loss, visual impairment decreased spontaneous movements failure to thrive hearing defect, deafness hypertonia, spasticity hypertrichosis intrauterine growth retardation microcephaly (<2 SD for age) onset, infancy onset, neonatal psychomotor retardation scoliosis seizures