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Summary
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 (CDG)
MAN1B1-CDG
614202
OMIM = Online Medalian Inheritance of Men
88616
9q34.3
rare
autosomal recessive
symptoms
dysmorphism
mental retardation
obesity
psychomotor retardation
seizures
laboratory finding
IEF of serum transferrin, type 2 pattern abnormalserum
Literature
Molho-Pessach Vet al.Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutationJ Am Acad Dermatol573407-4122007
Labauge Pet al.Beta-mannosidosis: a new cause of spinocerebellar ataxiaClin Neurol Neurosurg1111109-1102009
Billaut-Laden Iet al.Evidence for a functional genetic polymorphism of the human mercaptopyruvate sulfurtransferase (MPST), a cyanide detoxification enzymeToxicol Lett1652101-1112006
Nagahara NSawada NThe mercaptopyruvate pathway in cysteine catabolism: a physiologic role and related disease of the multifunctional 3-mercaptopyruvate sulfurtransferaseCurr Med Chem13101219-12302006
Riise Stensland HMet al.Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutationsMol Genet Metab944476-4802008
Sedel F,et al.Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiencyArch Neurol631129-1312006