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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Id
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE I D CDG-Id
601110
OMIM = Online Medalian Inheritance of Men
79321
3q27.1
very rare
autosomal recessive
mutation in the ALG3 gene
symptoms
cerebellar atrophy or hypoplasia
chorioretinal colobomata
dysmorphism
encephalopathy
failure to thrive
high arched palate
hypoglycemia
hypotonia
mental retardation
microcephaly
motor retardation
optic atrophy
seizures
laboratory finding
EEG abnormalities -
Transferrin abnormalserum
Literature
Tomoeda Ket al.Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuriaMol Genet Metab713506-5102000
Shintaku Het al.Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase genePediatr Res553425-4302004
Ten Brink HJvan den Heuvel CMM, Poll-The BT, Wanders RJA, Jacobs CPeroxysomal Disorders: Concentrations of metabolites in cerebrospinal fluid compared wth plasmaJ Inherit Metab Dis160587-5891993
Weiss RFogelman Y, Bennett MSevere vitamin B12 deficiency in an infant associated with a maternal deficiency and a strict vegetarian dietJ Pediatr Hematol Oncol264270-2712004
Reghu Aet al.Vitamin B12 deficiency presenting as oedema in infants of vegetarian mothersEur J Pediatr002005
Muntau ACet al.Tetrahydrobiopterin as an alternative treatment for mild phenylketonuriaN Engl J Med347262122-21322002
Heymans HSWanders RJA, Schutgens RBHPeroxisomal disordersJ Inherit Metab Dis00421-4331995
Matalon Ret al.Biopterin responsive phenylalanine hydroxylase deficiencyGenet Med6127-322004