Dietary treatment in late-onset acid maltase deficiency

被引:31
作者
Bodamer, OAF [1 ]
Leonard, JV [1 ]
Halliday, D [1 ]
机构
[1] ST MARYS HOSP,IMPERIAL COLL,SCH MED,MRC,HUMAN METAB RES GRP,LONDON,ENGLAND
关键词
acid maltase deficiency; glycogen storage disease; diet; alanine; stable isotope;
D O I
10.1007/PL00014270
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Late-onset acid maltase deficiency or glycogen storage disease type IT (GSD II) is a rare disorder of intralysosomal glycogen metabolism, resulting in progressive myopathy that is secondary to increased muscle protein breakdown. Stable isotope studies in the postabsorptive state have confirmed that mean protein breakdown in GSD II. is increased by 31% compared to control subjects, 6.86 versus 4,69 g/kg per day, that mean protein balance is reduced in GSD II -1.32 versus -1.06 g/kg per day. Indirect calorimetry has demonstrated an increase in mean resting energy expenditure in GSD LT, 41.8 versus 31.2 kcal/kg per day. Compliance following the introduction of a high-protein diet is often poor due to the large quantities of protein necessary and to the high caloric intake with the consequent weight gain. Only 25% of all reported subjects with GSD II showed an improvement of muscle or respiratory function after a high-protein diet. Careful evaluation of the underlying pathophysiological changes in GSD LT is necessary to develop more logical and therefore more beneficial forms of dietary treatment.
引用
收藏
页码:S39 / S42
页数:4
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