Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.
R Niehues(Zentrum für Kinderheilkunde), Martin Hasilik(Zentrum für Kinderheilkunde), Gordon Alton(Sanford Burnham Prebys Medical Discovery Institute), Christian Körner(München Klinik), M Schiebe-Sukumar(Zentrum für Kinderheilkunde), Hans‐Georg Koch(Zentrum für Kinderheilkunde), K. Zimmer(Zentrum für Kinderheilkunde), Rongrong Wu(Sanford Burnham Prebys Medical Discovery Institute), E. Harms(Zentrum für Kinderheilkunde), Karl Reiter(Sanford Burnham Prebys Medical Discovery Institute), Kurt Von Figura(Biologie Labor), Hudson H. Freeze(Sanford Burnham Prebys Medical Discovery Institute), H. K. Harms(Sanford Burnham Prebys Medical Discovery Institute), Thorsten Marquardt(Zentrum für Kinderheilkunde)
Cited by 428Open Access
Abstract
Phosphomannose isomerase (PMI) deficiency is the cause of a new type of carbohydrate-deficient glycoprotein syndrome (CDGS). The disorder is caused by mutations in the PMI1 gene. The clinical phenotype is characterized by protein-losing enteropathy, while neurological manifestations prevailing in other types of CDGS are absent. Using standard diagnostic procedures, the disorder is indistinguishable from CDGS type Ia (phosphomannomutase deficiency). Daily oral mannose administration is a successful therapy for this new type of CDG syndrome classified as CDGS type Ib.
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