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Hyperinsulinaemic hypoglycaemia—Leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency)

✍ Scribed by H. Böhles; A.C. Sewell; B. Gebhardt; A. Reinecke-Lüthge; G. Klöppel; T. Marquardt

Book ID
110325829
Publisher
Springer
Year
2001
Tongue
English
Weight
58 KB
Volume
24
Category
Article
ISSN
0141-8955

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## Abstract Congenital disorders of glycosylation (CDG) are a group of metabolic disorders with multisystemic involvement characterized by abnormalities in the synthesis of N‐linked oligosaccharides. The most common form, CDG‐Ia, resulting from mutations in the gene encoding the enzyme phosphomanno