Overview of Pompe Disease
Treating Pompe
Current Research
Supportive TherapiesDietary Therapy
Dietary therapy may be warranted in both infantile-onset and late-onset patients who are chronically underweight and struggle to take in enough calories on a daily basis. A referral to a registered dietician (RD) may be appropriate for determining the patient's optimal caloric intake and recommendations as to how to achieve it.
Dietary therapy is sometimes attempted in Pompe disease as case studies have shown that some patients demonstrated clinical improvement in conjunction with a high-protein, low-carbohydrate diet or, alternatively, a diet rich in amino acids.1, 2, 3, 4
Those with difficulty swallowing, a risk of aspiration, or who require invasive ventilation for short periods of time may be indicated for nasogastric (NG) or nasoenteric (NE) tube feeding, while those who require indefinite tube feeding may be candidates for permanent tube feed placement in the abdomen.
Tube feeding is generally more common in infantile-onset patients as a result of their severe muscle weakness, ventilator dependency, and macroglossia.
Long-term tube feed placement may be achieved via:
- Gastrostomy tube (G-tube), which delivers blenderized food to the stomach
- Jejunostomy tube (J-tube), which delivers liquid nutrients to the intestines, bypassing the stomach
- Gastrojejunostomy tube (GJ-tube), which also delivers liquid nutrients to the intestines
The location of the catheter and the placement technique -- including percutaneous, endoscopic, radiological, and surgical -- varies depending on the patient, physician, and facility.
Tube feeding is generally considered a more benign option than total parenteral nutrition (TPN), or intravenous feeding. As a result, TPN is typically reserved for patients in whom enteral feeding is contraindicated or inadequate.1
There may be other reasons for dietary therapy as well. Researchers have theorized that muscle wasting and weakness in Pompe disease may result from increased muscle protein breakdown, and accordingly, that efforts to restore the net protein balance may prove ameliorative.2
Several early case reports studying clinical improvement in late-onset patients treated with high-protein diets have suggested the potential to counteract muscle deterioration through diet.3, 4, 5
In recent years, however, research has shown that not all patients with Pompe disease will benefit from this approach. A 1997 review of the literature (eight published reports totaling 16 subjects) found that only 25% of patients treated with a high-protein diet displayed improvement in either respiratory or skeletal muscle function.2 Still, some physicians currently prescribe a specialized high-protein, low-carbohydrate diet as part of the management of individual patients.6
A variation of the high-protein diet is dietary supplementation with amino acids. A 1990 case report suggested that supplementing the patient's general diet with the branched chain amino acids (BCAA) including valine, isoleucine, and leucine may have positive effects.7
Another common supplement is alanine, a crystalline amino acid involved in both protein and glucose metabolism that is often depleted in Pompe disease.8 In 2002, researchers published the case study of an infant who presented with symptoms at 12 months of age and who was treated with L-alanine oral supplementation.2 After five years, the patient's cardiomyopathy had resolved almost completely and skeletal myopathy progressed slowly. Although dietary therapy is generally considered to have more of a role in late-onset patients, this study posits that supplementation with L-alanine may have value in infants.
< Respiatory Therapy | Pysical Therapy >
Disclaimer: The information contained is intended for educational purposes only. It is not a substitute for actual medical care. Persons requiring diagnosis or treatment or with questions specific to a single individual are urged to contact their local health care provider.
References
1. Kirby DF, DeLegge MH, Fleming CR. American Gastroenterological Association technical review on tube feeding for enteral nutrition. Gastroenterology 1995; 108: 1282-1301.
2. Bodamer OAF, Leonard JV, Halliday D. Dietary treatment in late-onset acid maltase deficiency. Eur J Pediatr 1997; 156: S39.
3. Slonim AE, Coleman RA, McElligot MA, et al. Improvement of muscle function in acid maltase deficiency by high-protein diet. Neurology 1983; 33: 34.
4. Umpleby AM, Wiles CM, Trend PS et al. Protein turnover in acid maltase deficiency before and after treatment with a high protein diet. J Neurol Neurosurg Psychiatry 1987 May;50(5):587-92.
5. Demey HE, Van Meerbeeck JP, Vandewoude MF, et al. Respiratory insufficiency in acid maltase deficiency: the effect of high protein diet. J Parenter Enteral Nutr 1989 May-Jun; 13(3): 321-3.
6. Personal communication with Jennifer Hofstein, MS, RD, and Alfred Slonim, MD, at North Shore University Hospital Pediatric Endocrinology & Metabolism, Manhasset, New York.
7. Mobarhan S, Pintozzi RL, Damle P, et al. Treatment of acid maltase deficiency with a diet high in branched-chain amino acids. J Parenter Enteral Nutr 1990 Mar-Apr; 14 (2): 210-2.
8. Personal communication with Jennifer Hofstein, MS, RD, and Alfred Slonim, MD, at North Shore University Hospital Pediatric Endocrinology & Metabolism, Manhasset, New York.
