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Summary
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IqCDG-Iq
CDG1Q SRD5A3-CDG
612379
OMIM = Online Medalian Inheritance of Men
324737
4q12
rare
autosomal recessive
symptoms
ataxia
cataract
chorioretinal colobomata
dysmorphism
failure to thrive
hypotonia
ichthyosis
impaired visual acuity
mental retardation
microcephaly
muscle weakness
nystagmus
optic atrophy
seizures
skin defects
laboratory finding
Sialotransferrins (isoelectrofocussing)0.000.00 increasedserumall
IEF of serum transferrin, type 1 pattern abnormalserum
Literature
Nordmann Yet al.Human hereditary hepatic porphyriasClin Chim Acta325017-372002
Badminton MNElder GHManagement of acute and cutaneous porphyriasInt J Clin Pract564272-2782002
Sarkany RPThe management of porphyria cutanea tardaClin Exp Dermatol263225-2322001
Pearl PLet al.Succinic semialdehyde dehydrogenase deficiency: lessons from mice and menJ Inherit Metab Dis323343-3522009