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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
mutation in the MAN1B1 gene
symptoms
dysmorphism
mental retardation
obesity
onset, childhood
onset, infancy
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