Improvement of muscle function in acid maltase deficiency by high‐protein therapy

Slonim, Alfred E.; Coleman, Rosalind A.; McElligot, Mary A.; Najjar, Jennifer; Hirschhorn, Kurt; Labadie, Gundula U; Mrak, Robert E.; Evans, Owen B.; Shipp, Elizabeth; Presson, Robin

doi:10.1212/wnl.33.1.34

Cited by 81 publications

(51 citation statements)

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“…For patients with late-onset Pompe disease, the goal is intended to manage 1) the increasing accumulation of glycogen and 2) the increase in amino acid utilization 7,11. Slonim et al63,64 have observed that a high protein-low carbohydrate diet plus aerobic exercise, can be beneficial to some of these patients (see cautions on limits of exercise in the Musculoskeletal/Functional/Rehabilitation section).…”

Section: Gastrointestinal/nutritionmentioning

confidence: 99%

Pompe disease diagnosis and management guideline

Kishnani

Steiner

Bali

et al. 2006

Genetics in Medicine

504

583

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Section: Gastrointestinal/nutritionmentioning

confidence: 99%

Pompe disease diagnosis and management guideline

Kishnani

Steiner

Bali

et al. 2006

Genetics in Medicine

504

583

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“…2,3 This hypothesis derives from the observation that the severity of myopathy seems to be out of proportion to the degree of glycogen muscle deposition. 13 Studies on plasma amino acid levels after ingestion of a protein load, and studies with leucine and alanine isotope turnover, support this view. 3 The restoration of normal levels of serum proteins in our patient could indicate that protein wasting, one of the main mechanisms of muscle damage, is reversed by ERT.…”

Section: Discussionmentioning

confidence: 97%

Enzyme replacement therapy in severe adult-onset glycogen storage disease type II

et al. 2008

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Glycogen storage disease type II (GSDII) is an autosomal recessive myopathy caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Enzyme replacement therapy (ERT) with recombinant GAA (rh-GAA) has become available for GSDII, although its effectiveness in adults remains unknown. We present a case of ERT with rhGAA in a 49-year-old male with GSDII in a severe stage of the disease. Quantitative magnetic resonance imaging showed an increase in muscle mass of the inferior limb, especially evident on the quadriceps femoris and the patient's body weight increased up to 30%, although his reported dietary habits were the same as before ERT. Beyond improvement in muscle strength and respiratory function, we observed a dramatic increase in body mass index from 12.7 to 16.6 kg/m(2). This may reflect a change from a catabolic state to a more balanced metabolic state during ERT.

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“…In patients in the early stages of this disease, both alanine and glutamine levels in plasma are very reduced. This has prompted attempts with high-protein, low-carbohydrate diets as well as supplements of alanine to attempt to correct these abnormalities (Bodamer et al 1997(Bodamer et al , 2000(Bodamer et al , 2002Slonim et al 1983). Although there have been sporadic reports suggesting potential benefit from these dietary strategies, there have, as yet, been no conclusive studies that are associated with consistent benefit to these patients.…”

Section: Pyruvate Carboxylase (Pc) Deficiency (Type B)mentioning

confidence: 99%

Anaplerotic diet therapy in inherited metabolic disease: Therapeutic potential

Roe

Mochel

2005

J of Inher Metab Disea

119

131

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Beginning with phenylketonuria, dietary therapy for inborn errors has focused primarily on the restriction of the precursor to an affected catabolic pathway in an attempt to limit the production of potential toxins. Anaplerotic therapy is based on the concept that there may exist an energy deficit in these diseases that might be improved by providing alternative substrate for both the citric acid cycle (CAC) and the electron transport chain for enhanced ATP production. This article focuses on this basic problem, as it may relate to most catabolic disorders, and provides our current experience involving inherited diseases of mitochondrial fat oxidation, glycogen storage, and pyruvate metabolism using the anaplerotic compound triheptanoin. The observations have led to a realization that 'inter-organ' signalling and 'nutrient sensors' such as adenylate monophosphate mediated-protein kinase (AMPK) and mTOR (mammalian target of rapamycin) appear to play a significant role in the intermediary metabolism of these diseases. Activated AMPK turns on catabolic pathways to augment ATP production while turning off synthetic pathways that consume ATP. Information is provided regarding the inter-organ requirements for more normal metabolic function during crisis and how anaplerotic therapy using triheptanoin, as a direct source of substrate to the CAC for energy production, appears to be a more successful approach to an improved quality of life for these patients.

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Improvement of muscle function in acid maltase deficiency by high‐protein therapy

Cited by 81 publications

References 0 publications

Pompe disease diagnosis and management guideline

Pompe disease diagnosis and management guideline

Enzyme replacement therapy in severe adult-onset glycogen storage disease type II

Anaplerotic diet therapy in inherited metabolic disease: Therapeutic potential

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