By Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
JIMD stories publishes case and brief examine reviews within the quarter of inherited metabolic issues. Case reviews spotlight a few strange or formerly unrecorded characteristic suitable to the illness, or function a tremendous reminder of scientific or biochemical positive aspects of a Mendelian disorder.
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Additional info for JIMD Reports, Volume 26
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1016/0307-4412(84)90118-3 Clayton P, Winchester B, Di Tomaso E, Young E, Keir G, Rodeck C (1993) Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus. Lancet 341(8850):956. 1016/ 0140-6736(93)91244-G de Jong G, van Eijk HG (1988) Microheterogeneity of human serum transferrin: a biological phenomenon studied by isoelectric focusing in immobilized pH gradients. Electrophoresis 9 (9):589–598 JIMD Reports de Jong G, van Noort WL, Feelders RA, de Jeu-Jaspars CM, van Eijk HG (1992) Adaptation of transferrin protein and glycan synthesis.
The liver JIMD Reports malfunction presented mainly with increased direct bilirubin levels (up to 35 mg/dl), increased ammonia levels, low clotting factor levels (Factor V-12%, Factor VII-8%), however, without considerable elevation in hepatocellular or cholestatic liver enzymes. Congenital thrombocytopenia was observed requiring perioperative platelet transfusions, yet neither anemia nor leucopenia was found. Blood smear showed a low number of small platelets. The thyroid axis hormones were examined routinely and revealed severe hypothyroidism with minimal change under levothyroxine sodium (T4) treatment.
2) is a key enzyme in the pentose phosphate pathway (PPP). 1). These two enzymes enable an important connection between the PPP and glycolysis (Perl 2007). TALDO interconverts a three-carbon moiety between different sugars; thus, it enables the production of fructose-6phosphate and erythrose-4-phosphate from glyceraldehyde-3-phosphate and sedoheptulose-7-phosphate. In the absence of transaldolase intermediate products such as ribitol, D-arabitol and erythritol may accumulate, and their 32 abnormal elevated concentrations can be measured directly (Wamelink et al.