Glycogen storage disease type III medical therapy: Difference between revisions

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{{Glycogen storage disease type III}}
{{Glycogen storage disease type III}}
{{CMG}}; {{AE}}
{{CMG}}; {{AE}} {{Anmol}}


==Overview==
==Overview==
There is no treatment for [disease name]; the mainstay of therapy is supportive care.
The medical therapy of glycogen storage disease type 3 is directed towards management of [[hypoglycemia]]. However, [[hypoglycemic]] episodes are less marked in glycogen storage disease type 3 than [[glycogen storage disease type 1]]. A [[high protein diet]] is recommended, especially for children with [[growth failure]] and [[myopathy]]. A [[Metabolism|metabolic]] [[dietician]] should be consulted once a case of GSD type 3 is diagnosed. Preferred treatment is use of [[cornstarch]]. Careful monitoring of [[blood glucose]] is needed during [[illness]], if diet or schedule is changed, start of [[exercise]] routine, and randomly to detect asymptomatic [[hypoglycemia]].
 
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==
==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]].<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 [[Metabolism|metabolic]] [[dietician]] should be consulted once a case of GSD type 3 is diagnosed.
*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 fasting.
** High dietary [[protein]] increase synthesis of [[proteins]] in [[muscles]] and improves [[muscle]] function.
** Replacement of [[carbohydrates]] with [[protein]] reduces storage of [[glycogen]].
*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 diet|ketogenic]] and may provide additional energy source for [[brain]].
*It is not needed to avoid [[sucrose]] ([[fructose]] and [[glucose]]) and [[lactose]] ([[galactose]] and [[glucose]]).
*Distribution of calories:<ref name="pmid8245377">{{cite journal| author=Goldberg T, Slonim AE| title=Nutrition therapy for hepatic glycogen storage diseases. | journal=J Am Diet Assoc | year= 1993 | volume= 93 | issue= 12 | pages= 1423-30 | pmid=8245377 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8245377  }} </ref>
**[[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)


*The primary concern in infants and young children with GSD type 1 is [[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


* '''3 Adults'''
** '''3.1 Glycogen storage disease type 3a'''
**:*  Increase [[Protein-arginine deiminase|protein]] in diet
** '''3.2 Glycogen storage disease type 3b'''
**:* No specific treatment is needed


*Pharmacologic medical therapy is recommended among patients with [disease subclass 1], [disease subclass 2], and [disease subclass 3].
===Contraindications===
*Pharmacologic medical therapies for [disease name] include (either) [therapy 1], [therapy 2], and/or [therapy 3].
Medications and supplements contraindicated in glycogen storage disease type 3 include:<ref>Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. 2010 Mar 9 [Updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26372/</ref>
*Empiric therapy for [disease name] depends on [disease factor 1] and [disease factor 2].
*'''1 Absolute contraindication'''
*Patients with [disease subclass 1] are treated with [therapy 1], whereas patients with [disease subclass 2] are treated with [therapy 2].
** High sugar intake
===Disease Name===
** [[Steroid]]-based drugs
 
** [[Growth hormone treatment|Growth hormone replacement therapy]]
* '''1 Stage 1 - Name of stage'''
*'''2 Relative contraindication'''
** 1.1 '''Specific Organ system involved 1'''
** [[Hormonal contraceptives]] in women
*** 1.1.1 '''Adult'''
** [[Statins]] for control of [[hyperlipidemia]]
**** Preferred regimen (1): [[drug name]] 100 mg PO q12h for 10-21 days '''(Contraindications/specific instructions)''' 
** [[Beta blockers]]
**** Preferred regimen (2): [[drug name]] 500 mg PO q8h for 14-21 days
**** Preferred regimen (3): [[drug name]] 500 mg q12h for 14-21 days
**** Alternative regimen (1): [[drug name]] 500 mg PO q6h for 7–10 days 
**** Alternative regimen (2): [[drug name]] 500 mg PO q12h for 14–21 days
**** Alternative regimen (3): [[drug name]] 500 mg PO q6h for 14–21 days
*** 1.1.2 '''Pediatric'''
**** 1.1.2.1 (Specific population e.g. '''children < 8 years of age''')
***** Preferred regimen (1): [[drug name]] 50 mg/kg PO per day q8h (maximum, 500 mg per dose) 
***** Preferred regimen (2): [[drug name]] 30 mg/kg PO per day in 2 divided doses (maximum, 500 mg per dose)
***** Alternative regimen (1): [[drug name]]10 mg/kg PO q6h (maximum, 500 mg per day)
***** Alternative regimen (2): [[drug name]] 7.5 mg/kg PO q12h (maximum, 500 mg per dose)
***** Alternative regimen (3): [[drug name]] 12.5 mg/kg PO q6h (maximum, 500 mg per dose)
****1.1.2.2 (Specific population e.g. ''''''children < 8 years of age'''''')
***** Preferred regimen (1): [[drug name]] 4 mg/kg/day PO q12h（maximum, 100 mg per dose）
***** Alternative regimen (1): [[drug name]] 10 mg/kg PO q6h (maximum, 500 mg per day)
***** Alternative regimen (2): [[drug name]] 7.5 mg/kg PO q12h (maximum, 500 mg per dose) 
***** Alternative regimen (3): [[drug name]] 12.5 mg/kg PO q6h (maximum, 500 mg per dose)
** 1.2 '''Specific Organ system involved 2'''
*** 1.2.1 '''Adult'''
**** Preferred regimen (1): [[drug name]] 500 mg PO q8h
*** 1.2.2  '''Pediatric'''
**** Preferred regimen (1): [[drug name]] 50 mg/kg/day PO q8h (maximum, 500 mg per dose)
 
* 2 '''Stage 2 - Name of stage'''
** 2.1 '''Specific Organ system involved 1 '''
**: '''Note (1):'''
**: '''Note (2)''':
**: '''Note (3):'''
*** 2.1.1 '''Adult'''
**** Parenteral regimen
***** Preferred regimen (1): [[drug name]] 2 g IV q24h for 14 (14–21) days
***** Alternative regimen (1): [[drug name]] 2 g IV q8h for 14 (14–21) days
***** Alternative regimen (2): [[drug name]] 18–24 MU/day IV q4h for 14 (14–21) days
**** Oral regimen
***** Preferred regimen (1): [[drug name]] 500 mg PO q8h for 14 (14–21) days
***** Preferred regimen (2): [[drug name]] 100 mg PO q12h for 14 (14–21) days
***** Preferred regimen (3): [[drug name]] 500 mg PO q12h for 14 (14–21) days
***** Alternative regimen (1): [[drug name]] 500 mg PO q6h for 7–10 days 
***** Alternative regimen (2): [[drug name]] 500 mg PO q12h for 14–21 days
***** Alternative regimen (3):[[drug name]] 500 mg PO q6h for 14–21 days
*** 2.1.2 '''Pediatric'''
**** Parenteral regimen
***** Preferred regimen (1): [[drug name]] 50–75 mg/kg IV q24h for 14 (14–21) days (maximum, 2 g)
***** Alternative regimen (1): [[drug name]] 150–200 mg/kg/day IV q6–8h for 14 (14–21) days (maximum, 6 g per day)
***** Alternative regimen (2):  [[drug name]] 200,000–400,000 U/kg/day IV q4h for 14 (14–21) days (maximum, 18–24 million U per day) ''''''(Contraindications/specific instructions)''''''
**** Oral regimen
***** Preferred regimen (1):  [[drug name]] 50 mg/kg/day PO q8h for 14 (14–21) days  (maximum, 500 mg per dose)
***** Preferred regimen (2): [[drug name]] '''(for children aged ≥ 8 years)''' 4 mg/kg/day PO q12h for 14 (14–21) days (maximum, 100 mg per dose)
***** Preferred regimen (3): [[drug name]] 30 mg/kg/day PO q12h for 14 (14–21) days  (maximum, 500 mg per dose)
***** Alternative regimen (1):  [[drug name]] 10 mg/kg PO q6h 7–10 days  (maximum, 500 mg per day)
***** Alternative regimen (2): [[drug name]] 7.5 mg/kg PO q12h for 14–21 days  (maximum, 500 mg per dose)
***** Alternative regimen (3): [[drug name]] 12.5 mg/kg PO q6h for 14–21 days  (maximum,500 mg per dose)
** 2.2  '<nowiki/>'''''Other Organ system involved 2''''''
**: '''Note (1):'''  
**: '''Note (2)''':
**: '''Note (3):'''
*** 2.2.1 '''Adult'''
**** Parenteral regimen
***** Preferred regimen (1): [[drug name]] 2 g IV q24h for 14 (14–21) days
***** Alternative regimen (1): [[drug name]] 2 g IV q8h for 14 (14–21) days
***** Alternative regimen (2): [[drug name]] 18–24 MU/day IV q4h for 14 (14–21) days
**** Oral regimen
***** Preferred regimen (1): [[drug name]] 500 mg PO q8h for 14 (14–21) days
***** Preferred regimen (2): [[drug name]] 100 mg PO q12h for 14 (14–21) days
***** Preferred regimen (3): [[drug name]] 500 mg PO q12h for 14 (14–21) days
***** Alternative regimen (1): [[drug name]] 500 mg PO q6h for 7–10 days 
***** Alternative regimen (2): [[drug name]] 500 mg PO q12h for 14–21 days
***** Alternative regimen (3):[[drug name]] 500 mg PO q6h for 14–21 days
*** 2.2.2 '''Pediatric'''
**** Parenteral regimen
***** Preferred regimen (1): [[drug name]] 50–75 mg/kg IV q24h for 14 (14–21) days (maximum, 2 g)
***** Alternative regimen (1): [[drug name]] 150–200 mg/kg/day IV q6–8h for 14 (14–21) days (maximum, 6 g per day)
***** Alternative regimen (2):  [[drug name]] 200,000–400,000 U/kg/day IV q4h for 14 (14–21) days (maximum, 18–24 million U per day)
**** Oral regimen
***** Preferred regimen (1):  [[drug name]] 50 mg/kg/day PO q8h for 14 (14–21) days  (maximum, 500 mg per dose)
***** Preferred regimen (2): [[drug name]] 4 mg/kg/day PO q12h for 14 (14–21) days (maximum, 100 mg per dose)
***** Preferred regimen (3): [[drug name]] 30 mg/kg/day PO q12h for 14 (14–21) days  (maximum, 500 mg per dose)
***** Alternative regimen (1):  [[drug name]] 10 mg/kg PO q6h 7–10 days  (maximum, 500 mg per day)
***** Alternative regimen (2): [[drug name]] 7.5 mg/kg PO q12h for 14–21 days  (maximum, 500 mg per dose)
***** Alternative regimen (3): [[drug name]] 12.5 mg/kg PO q6h for 14–21 days  (maximum,500 mg per dose)


==References==
==References==
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{{WS}}
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[[Category: (name of the system)]]
 
[[Category:Endocrinology]]
[[Category:Hepatology]]
[[Category:Gastroenterology]]
[[Category:Pediatrics]]
[[Category:Up-To-Date]]
[[Category:Genetic disorders]]
[[Category:Metabolic disorders]]

Latest revision as of 17:24, 16 January 2018

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]

Overview

The medical therapy of glycogen storage disease type 3 is directed towards management of hypoglycemia. However, hypoglycemic episodes are less marked in glycogen storage disease type 3 than glycogen storage disease type 1. A high protein diet is recommended, especially for children with growth failure and myopathy. A metabolic dietician should be consulted once a case of GSD type 3 is diagnosed. Preferred treatment is use of cornstarch. Careful monitoring of blood glucose is needed during illness, if diet or schedule is changed, start of exercise routine, and randomly to detect asymptomatic hypoglycemia.

Medical Therapy

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:
    • 1.2 Severe hypoglycemia
      • Preferred treatment (1): Cornstarch (CS) 1.6 g/kg body weight PO q4h
      • Preferred treatment (2): Overnight gastric feedings (OGFs)
  • 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
  • 3 Adults
    • 3.1 Glycogen storage disease type 3a
    • 3.2 Glycogen storage disease type 3b
      • No specific treatment is needed

Contraindications

Medications and supplements contraindicated in glycogen storage disease type 3 include:[4]

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ Goldberg T, Slonim AE (1993). "Nutrition therapy for hepatic glycogen storage diseases". J Am Diet Assoc. 93 (12): 1423–30. PMID 8245377.
  4. ↑ Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. 2010 Mar 9 [Updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26372/

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