Glycogen storage disease type III medical therapy: Difference between revisions
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*The primary concern in infants and young children with GSD type 3 is [[hypoglycemia]]. | *The primary concern in infants and young children with GSD type 3 is [[hypoglycemia]]. | ||
*However hypoglycemic episodes are less marked in glycogen storage disease type 3 than glycogen storage disease type 1.<ref name="pmid3292244">{{cite journal| author=Fernandes J, Leonard JV, Moses SW, Odièvre M, di Rocco M, Schaub J et al.| title=Glycogen storage disease: recommendations for treatment. | journal=Eur J Pediatr | year= 1988 | volume= 147 | issue= 3 | pages= 226-8 | pmid=3292244 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3292244 }} </ref> | *However [[hypoglycemic]] episodes are less marked in glycogen storage disease type 3 than [[glycogen storage disease type 1]].<ref name="pmid3292244">{{cite journal| author=Fernandes J, Leonard JV, Moses SW, Odièvre M, di Rocco M, Schaub J et al.| title=Glycogen storage disease: recommendations for treatment. | journal=Eur J Pediatr | year= 1988 | volume= 147 | issue= 3 | pages= 226-8 | pmid=3292244 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3292244 }} </ref> | ||
*A high protein diet is recommended, especially for children with growth failure and myopathy due to reasons including:<ref name="pmid6438290">{{cite journal| author=Slonim AE, Coleman RA, Moses WS| title=Myopathy and growth failure in debrancher enzyme deficiency: improvement with high-protein nocturnal enteral therapy. | journal=J Pediatr | year= 1984 | volume= 105 | issue= 6 | pages= 906-11 | pmid=6438290 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6438290 }} </ref> | *A high protein diet is recommended, especially for children with growth failure and myopathy due to reasons including:<ref name="pmid6438290">{{cite journal| author=Slonim AE, Coleman RA, Moses WS| title=Myopathy and growth failure in debrancher enzyme deficiency: improvement with high-protein nocturnal enteral therapy. | journal=J Pediatr | year= 1984 | volume= 105 | issue= 6 | pages= 906-11 | pmid=6438290 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6438290 }} </ref> | ||
** Protein provides alanine which may be used in gluconeogenesis as a substitute source of glucose during fast. | ** [[Protein]] provides [[alanine]] which may be used in [[gluconeogenesis]] as a substitute source of [[glucose]] during fast. | ||
** High dietary protein increase synthesis of proteins in muscles and improves muscle function. | ** High dietary [[protein]] increase synthesis of [[proteins]] in [[muscles]] and improves [[muscle]] function. | ||
** Replacement of carbohydrates with protein reduces storage of glycogen. | ** Replacement of [[carbohydrates]] with [[protein]] reduces storage of [[glycogen]]. | ||
*A low fat diet is recommended due to reasons including: | *A low [[fat]] diet is recommended due to reasons including: | ||
** High protein and high carbohydrates necessitate reduction of fats. | ** High [[protein]] and high [[carbohydrates]] necessitate reduction of [[fats]]. | ||
** Young age group individuals may be inefficient in oxidizing long chain fatty acids. | ** Young age group individuals may be inefficient in oxidizing [[long chain fatty acids]]. | ||
** Moderate amount of medium chain triglycerides (MCT) are preferred as they are ketogenic and may provide additional energy source for brain. | ** Moderate amount of [[medium chain triglycerides]] (MCT) are preferred as they are [[ketogenic]] and may provide additional energy source for [[brain]]. | ||
*It is not needed to avoid [[sucrose]] ([[fructose]] and [[glucose]]) and [[lactose]] ([[galactose]] and [[glucose]]). | *It is not needed to avoid [[sucrose]] ([[fructose]] and [[glucose]]) and [[lactose]] ([[galactose]] and [[glucose]]). | ||
*A [[Metabolism|metabolic]] [[dietician]] should be consulted once a case of GSD type 3 is diagnosed. | *A [[Metabolism|metabolic]] [[dietician]] should be consulted once a case of GSD type 3 is diagnosed. | ||
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* '''1 Infants or young child''' | * '''1 Infants or young child''' | ||
** '''1.1 Asymptomatic or mild hypoglycemia''' | ** '''1.1 Asymptomatic or mild hypoglycemia''' | ||
**:* Preferred treatment (1): Cornstarch (CS) 1 g/kg body weight PO q4h | **:* Preferred treatment (1): [[Cornstarch]] (CS) 1 g/kg body weight PO q4h | ||
**:: '''NOTE (1):''' Digestive enzymes such as amylase are not fully functional during infancy. So, CS may not be well tolerated leading to gas, diarrhea and bloating. Addition of pancrelipase with CS may help with digestion and reduces side effects. | **:: '''NOTE (1):''' [[Digestive enzymes]] such as [[amylase]] are not fully functional during infancy. So, CS may not be well tolerated leading to gas, [[diarrhea]], and [[bloating]]. Addition of [[pancrelipase]] with CS may help with [[digestion]] and reduces side effects. | ||
**:: '''NOTE (2):''' Pancrealipase consists of three enzymes including lipase, protease, and amylase. | **:: '''NOTE (2):''' Pancrealipase consists of three enzymes including [[lipase]], [[protease]], and [[amylase]]. | ||
**:: '''NOTE (3):''' Typically, CS requirement of glycogen storage disease type 3 is less than glycogen storage disease type | **:: '''NOTE (3):''' Typically, CS requirement of glycogen storage disease type 3 is less than [[glycogen storage disease type 1]]. So, starting CS at a lower dose and increasing the dose as per requirement is recommended. | ||
**:: '''NOTE (4):''' During the initiation of treatment, blood glucose should be monitored every hour to establish the adequacy of CS dosage. As the dosage of CS is fixed, the frequency of blood glucose monitoring may be decreased thereafter. | **:: '''NOTE (4):''' During the initiation of treatment, [[blood glucose]] should be monitored every hour to establish the adequacy of CS dosage. As the dosage of CS is fixed, the frequency of [[blood glucose]] monitoring may be decreased thereafter. | ||
**:: '''NOTE (5):''' Careful monitoring of blood glucose is needed during: | **:: '''NOTE (5):''' Careful monitoring of [[blood glucose]] is needed during: | ||
**:::* Illness | **:::* [[Illness]] | ||
**:::* Diet or schedule is changed | **:::* Diet or schedule is changed | ||
**:::* During start of exercise routine | **:::* During start of [[exercise]] routine | ||
**:::* Randomly to detect asymptomatic hypoglycemia | **:::* Randomly to detect asymptomatic [[hypoglycemia]] | ||
** '''1.2 Severe hypoglycemia''' | ** '''1.2 Severe hypoglycemia''' | ||
**:* Preferred treatment (1): Cornstarch (CS) 1.6 g/kg body weight PO q4h | **:* Preferred treatment (1): [[Cornstarch]] (CS) 1.6 g/kg body weight PO q4h | ||
**:* Preferred treatment (2): Overnight gastric feedings (OGFs) | **:* Preferred treatment (2): Overnight gastric feedings (OGFs) | ||
* '''2 Older child''' | * '''2 Older child''' | ||
** '''2.1 Asymptomatic or mild hypoglycemia''' | ** '''2.1 Asymptomatic or mild hypoglycemia''' | ||
**:* Preferred treatment (1): Cornstarch (CS) 1 g/kg body weight PO q4h | **:* Preferred treatment (1): [[Cornstarch]] (CS) 1 g/kg body weight PO q4h | ||
** '''2.2 Severe hypoglycemia''' | ** '''2.2 Severe hypoglycemia''' | ||
**:* Preferred treatment (1): Cornstarch (CS) 1.7–2.5 g/kg body weight PO q6h | **:* Preferred treatment (1): [[Cornstarch]] (CS) 1.7–2.5 g/kg body weight PO q6h | ||
* '''3 Adults''' | * '''3 Adults''' | ||
** '''Glycogen stirage disease type 3a''' | ** '''Glycogen stirage disease type 3a''' | ||
**:* Increase protein in diet | **:* Increase [[Protein-arginine deiminase|protein]] in diet | ||
** '''Glycogen stirage disease type 3b''' | ** '''Glycogen stirage disease type 3b''' | ||
**:* No specific treatment is needed | **:* No specific treatment is needed |
Revision as of 21:04, 19 December 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
There is no treatment for [disease name]; the mainstay of therapy is supportive care.
OR
Supportive therapy for [disease name] includes [therapy 1], [therapy 2], and [therapy 3].
OR
The majority of cases of [disease name] are self-limited and require only supportive care.
OR
[Disease name] is a medical emergency and requires prompt treatment.
OR
The mainstay of treatment for [disease name] is [therapy].
OR The optimal therapy for [malignancy name] depends on the stage at diagnosis.
OR
[Therapy] is recommended among all patients who develop [disease name].
OR
Pharmacologic medical therapy is recommended among patients with [disease subclass 1], [disease subclass 2], and [disease subclass 3].
OR
Pharmacologic medical therapies for [disease name] include (either) [therapy 1], [therapy 2], and/or [therapy 3].
OR
Empiric therapy for [disease name] depends on [disease factor 1] and [disease factor 2].
OR
Patients with [disease subclass 1] are treated with [therapy 1], whereas patients with [disease subclass 2] are treated with [therapy 2].
Medical Therapy
- The primary concern in infants and young children with GSD type 3 is hypoglycemia.
- However hypoglycemic episodes are less marked in glycogen storage disease type 3 than glycogen storage disease type 1.[1]
- A high protein diet is recommended, especially for children with growth failure and myopathy due to reasons including:[2]
- A low fat diet is recommended due to reasons including:
- High protein and high carbohydrates necessitate reduction of fats.
- Young age group individuals may be inefficient in oxidizing long chain fatty acids.
- Moderate amount of medium chain triglycerides (MCT) are preferred as they are ketogenic and may provide additional energy source for brain.
- It is not needed to avoid sucrose (fructose and glucose) and lactose (galactose and glucose).
- A metabolic dietician should be consulted once a case of GSD type 3 is diagnosed.
- Distribution of calories:[3]
- Calories from carbohydrate: 35-55%
- Calories from protein: 20-30%
- Calories from fats: 20-35 (including MCT)
Nutritional therapy
- 1 Infants or young child
- 1.1 Asymptomatic or mild hypoglycemia
- Preferred treatment (1): Cornstarch (CS) 1 g/kg body weight PO q4h
- NOTE (1): Digestive enzymes such as amylase are not fully functional during infancy. So, CS may not be well tolerated leading to gas, diarrhea, and bloating. Addition of pancrelipase with CS may help with digestion and reduces side effects.
- NOTE (2): Pancrealipase consists of three enzymes including lipase, protease, and amylase.
- NOTE (3): Typically, CS requirement of glycogen storage disease type 3 is less than glycogen storage disease type 1. So, starting CS at a lower dose and increasing the dose as per requirement is recommended.
- NOTE (4): During the initiation of treatment, blood glucose should be monitored every hour to establish the adequacy of CS dosage. As the dosage of CS is fixed, the frequency of blood glucose monitoring may be decreased thereafter.
- NOTE (5): Careful monitoring of blood glucose is needed during:
- Illness
- Diet or schedule is changed
- During start of exercise routine
- Randomly to detect asymptomatic hypoglycemia
- 1.2 Severe hypoglycemia
- Preferred treatment (1): Cornstarch (CS) 1.6 g/kg body weight PO q4h
- Preferred treatment (2): Overnight gastric feedings (OGFs)
- 1.1 Asymptomatic or mild hypoglycemia
- 2 Older child
- 2.1 Asymptomatic or mild hypoglycemia
- Preferred treatment (1): Cornstarch (CS) 1 g/kg body weight PO q4h
- 2.2 Severe hypoglycemia
- Preferred treatment (1): Cornstarch (CS) 1.7–2.5 g/kg body weight PO q6h
- 2.1 Asymptomatic or mild hypoglycemia
- 3 Adults
- Glycogen stirage disease type 3a
- Increase protein in diet
- Glycogen stirage disease type 3b
- No specific treatment is needed
- Glycogen stirage disease type 3a
References
- ↑ Fernandes J, Leonard JV, Moses SW, Odièvre M, di Rocco M, Schaub J; et al. (1988). "Glycogen storage disease: recommendations for treatment". Eur J Pediatr. 147 (3): 226–8. PMID 3292244.
- ↑ Slonim AE, Coleman RA, Moses WS (1984). "Myopathy and growth failure in debrancher enzyme deficiency: improvement with high-protein nocturnal enteral therapy". J Pediatr. 105 (6): 906–11. PMID 6438290.
- ↑ Goldberg T, Slonim AE (1993). "Nutrition therapy for hepatic glycogen storage diseases". J Am Diet Assoc. 93 (12): 1423–30. PMID 8245377.