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Summary
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 (CDG)
TUSC3-CDG
611093
OMIM = Online Medalian Inheritance of Men
88616
8p22
very rare
autosomal recessive
symptoms
mental retardation
onset, child
speech development, delayed, abnormal
laboratory finding
IEF of serum transferrin normalserum
Literature
Khayat MNovel human pathological mutations. Gene symbol: CPS1. Disease: carbamoyl phosphate synthetase I deficiencyHum Genet12533362009
Enns GMet al.Survival after treatment with phenylacetate and benzoate for urea-cycle disordersN Engl J Med356222321-23222007
Madhavarao CNet al.Glyceryl triacetate for Canavan disease: A low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat modelJ Inherit Metab Dis002009
Baslow MHGuilfoyle DNAre astrocytes the missing link between lack of brain aspartoacylase activity and the spongiform leukodystrophy in canavan disease?Neurochem Res3491523-15242009
Hershfield JRet al.Mutational analysis of aspartoacylase: implications for Canavan diseaseBrain Res114801-142007
Moffett JRet al.N-Acetylaspartate in the CNS: from neurodiagnostics to neurobiologyProg Neurobiol81289-1312007
Ono H, Suto Tet al.A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of ageBrain Dev002009