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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Im
CDG1M DK1-CDG
610768
OMIM = Online Medalian Inheritance of Men
91131
9q34.11
rare
autosomal recessive
symptoms
cardiomyopathy
early death
hair loss
hypoglycemia
hypotonia
ichthyosis
seizures
laboratory finding
Literature
Wolf NIet al.Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiencyJ Inher Met Dis270291-2932004
Makhseed Net al.Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathyJ Inherit Metab Dis276778-7802004
Stolzel Uet al.Hemochromatosis (HFE) gene mutations and response to chloroquine in porphyria cutanea tardaArch Dermatol1393309-3132003