Phosphomannose isomerase (PMI) deficiency (CDG‐Ib) is a newly recognized disorder of mannose and glycoprotein metabolism. PMI deficiency manifests itself mainly as a gastrointestinal disorder with protein‐losing enteropathy and life‐threatening intestinal bleeding. Hypoglycaemia is an additional prominent symptom. In contrast to phosphomannomutase deficiency (CDG‐Ia), there are no neurological symptoms. PMI deficiency blocks the endogenous mannose formation from glucose. Exogenous oral mannose supply bypasses the enzymatic block and leads to the disappearance of all symptoms in the patient. The striking ultrastructural abnormalities of the rough endoplasmatic reticulum of the duodenal epithelial cells completely normalize and the hypoglycosylation disappears, as evidenced by the normal isoelectric focusing pattern of serum transferrin, the standard diagnostic procedure for recognition of CDG. This paper includes a detailed description of the clinical symptomatology of the first‐ever diagnosed and treated patient with PMI deficiency and a 5–y follow‐up study of mannose therapy.
There are two forms of orosomucoid (ORM) in the sera of most individuals. They are encoded by two separate but closely linked loci, ORM1 and ORM2. A number of variants have been identified in various populations. Duplication and nonexpression are also observed in some populations. Thus, the ORM system is very complicated and its nomenclature is very confusing. In order to propose a new nomenclature, ORM variants detected by several laboratories have been compared and characterized by isoelectric focusing (IEF) followed by immunoprinting. A total of 57 different alleles including 17 new ones were identified. The 27 alleles were assigned to the ORM1 locus, and the others to the ORM2 locus. The designations ORM*F1, ORM1*F2, ORM1*S and ORM2*M were adopted for the four common alleles instead of ORM1*1, ORM1*3, ORM1*2 and ORM2*1 (ORM2*A), respectively. The variants were designated alpha numerically according to their relative mobilities after IEF in a pH gradient of 4.5-5.4 with Triton X-100 and glycerol. For the duplicated genes a prefix is added to a combined name of two alleles, e.g. ORM1*dB9S. Silent alleles were named ORM1*Q0 and ORM2*Q0 conventionally. In addition, the effects of diseases to ORM band patterns after IEF are also discussed.
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