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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 (<2 SD for age)
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