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Summary
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu
CDG1U
615042
OMIM = Online Medalian Inheritance of Men
329178
3q34.11
rare
autosomal recessive
symptoms
abnormal movement
cerebellar atrophy or hypoplasia
contractures, joints
feeding difficulties, poor feeding
hypotonia
microcephaly (<2 SD for age)
onset, neonatal
optic atrophy
psychomotor retardation
respiratory distress
seizures
small chin or micrognathia
strabismus
laboratory finding
Creatine kinase increasedserum
Transaminases increasedserum
Literature
Leuzzi Vet al.The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiencyJ Inherit Metab Dis29138-462006
Baldellou V++¡zquez Aet al.Tetrahydrobiopterin therapy for hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. When and how?An Pediatr (Barc). 2006 Feb64(2):146-52642146-1522006