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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ix
CDG1X STT3B-CDG
615597
OMIM = Online Medalian Inheritance of Men
370924
3p23
very rare
autosomal recessive
symptoms
cerebellar atrophy or hypoplasia
cryptorchism
early death
failure to thrive
feeding difficulties
growth retardation
hypotonia
liver involvement (acute, chronic, hepatitis)
mental retardation
microcephaly
onset, newborn
optic atrophy
psychomotor retardation
seizures
tachypnea, hyperpnea, dyspnea, respiratory distress
thrombopenia, thrombocytopenia
laboratory finding
EEG abnormalities -
Sialotransferrins (isoelectrofocussing) abnormalserum
Literature
Gerlo E,et al.Gas chromatographic-mass spectrometric analysis of N-acetylated amino acids: the first case of aminoacylase I deficiencyAnal Chim Acta5712191-1992006
Sass JO,et al.Neurological findings in aminoacylase 1 deficiencyNeurology68242151-21532007
Lindner HA,Taefler-Naumann M, R+Âhm KHN-acetylamino acid utilization by kidney aminoacylase-1Biochimie905773-7802008
Lindner HA,et al.Probing the acyl-binding pocket of aminoacylase-1Biochemistry47144255-42752008
Percy MJ,Lappin TRRecessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiencyBr J Haematol1413298-3082008