Glycogen storage disease type I medical therapy: Difference between revisions
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==Overview== | ==Overview== | ||
The medical management of glycogen | The medical management of glycogen storage disease type 1 (GSD type 1) is divided into nutritional therapy and pharmacologic management of systemic complications. The primary concern in infants and young children with GSD type 1 is [[hypoglycemia]]. Small frequent feeds high in complex [[carbohydrates]] (preferably those high in [[Fiber (food)|fiber]]) are administered at regular intervals throughout 24 hours for the prevention of [[hypoglycemia]]. [[Sucrose]] ([[fructose]] and [[glucose]]) and [[lactose]] ([[galactose]] and [[glucose]]) may be limited or avoided. Solid food is introduced at the time of 4 - 6 months. Infant cereals are started followed by vegetables and then by meat.The preferred treatment for young child is [[cornstarch]] (CS); which may be used alone or by mixing it with [[sucrose]]-free, [[fructose]]-free, [[lactose]]-free infant formula, sugar-free soy milk, sugar-free drinks, and/or water. Other treatment strategies are directed towards management of [[hypocitraturia]], [[hypercalcemia]], [[proteinuria]], [[Platelet disorder|platelet dysfunction]], and [[neutropenia]]. | ||
==Medical Therapy== | ==Medical Therapy== | ||
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****Preferred treatment (1): Overnight [[gastric]] feedings (OGFs) | ****Preferred treatment (1): Overnight [[gastric]] feedings (OGFs) | ||
****Preferred treatment (2): Wake up infant q3h - q4h; [[Blood glucose monitoring|monitor blood glucose]] and offer feeding | ****Preferred treatment (2): Wake up infant q3h - q4h; [[Blood glucose monitoring|monitor blood glucose]] and offer feeding | ||
***:'''Note (1):''' As [[hypoglycemia]] in GSD type 1 can be life-threatening and may cause [[Seizure|seizures]], permanent [[brain damage]] and even death, training of the parents (and/or child, when older) in inserting a [[Nasogastric tube|nasogastric]] (NG) tube or that a G-tube be | ***:'''Note (1):''' As [[hypoglycemia]] in GSD type 1 can be life-threatening and may cause [[Seizure|seizures]], permanent [[brain damage]] and even death, training of the parents (and/or child, when older) in inserting a [[Nasogastric tube|nasogastric]] (NG) tube or that a G-tube be surgically placed is recommended, so that there is always access to treat for [[hypoglycemia]], especially during times of illness or refusal to eat. | ||
***:'''Note (2):''' A G-tube may not be a good option in patients of GSD type 1b with [[neutropenia]] as it increases the risk of recurrent [[Infection|infections]] at the [[Surgical site infection|surgical site]]. [[Granulocyte colony-stimulating factor]] ([[G-CSF]] | ***:'''Note (2):''' A G-tube may not be a good option in patients of GSD type 1b with [[neutropenia]] as it increases the risk of recurrent [[Infection|infections]] at the [[Surgical site infection|surgical site]]. [[Granulocyte colony-stimulating factor]] ([[G-CSF]] or [[Neupogen]]) should be administered before placing a G-tube if the child has [[neutropenia]]. | ||
***:'''Note (3):''' [[Blood sugar|Blood glucose]] level should be maintained at more than 70 mg/dl or 4 mmol/l. | ***:'''Note (3):''' [[Blood sugar|Blood glucose]] level should be maintained at more than 70 mg/dl or 4 mmol/l. | ||
***:'''Note (4):''' Feeding regimen are decided on a case by case basis. | ***:'''Note (4):''' Feeding regimen are decided on a case by case basis. | ||
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:and cane sugar; juice, and syrups | :and cane sugar; juice, and syrups | ||
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| colspan="3" | <small> | | colspan="3" | <small>Adapted from [https://www.nature.com/gim/journal/vaop/ncurrent/fig_tab/gim2014128t4.html| Genetics in Medicine]</small><ref name="KishnaniAustin2014">{{cite journal|last1=Kishnani|first1=Priya S.|last2=Austin|first2=Stephanie L.|last3=Abdenur|first3=Jose E.|last4=Arn|first4=Pamela|last5=Bali|first5=Deeksha S.|last6=Boney|first6=Anne|last7=Chung|first7=Wendy K.|last8=Dagli|first8=Aditi I.|last9=Dale|first9=David|last10=Koeberl|first10=Dwight|last11=Somers|first11=Michael J.|last12=Burns Wechsler|first12=Stephanie|last13=Weinstein|first13=David A.|last14=Wolfsdorf|first14=Joseph I.|last15=Watson|first15=Michael S.|title=Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics|journal=Genetics in Medicine|year=2014|issn=1098-3600|doi=10.1038/gim.2014.128}}</ref><ref name="pmid2164043">{{cite journal| author=Kilpatrick L, Garty BZ, Lundquist KF, Hunter K, Stanley CA, Baker L et al.| title=Impaired metabolic function and signaling defects in phagocytic cells in glycogen storage disease type 1b. | journal=J Clin Invest | year= 1990 | volume= 86 | issue= 1 | pages= 196-202 | pmid=2164043 | doi=10.1172/JCI114684 | pmc=296707 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2164043 }} </ref> | ||
|} | |} | ||
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***:'''Note (2):''' Absence of [[genitourinary tract]] [[bleeding]] should be ensured as inhibition of [[fibrinolysis]] may lead to an [[obstructive nephropathy]]. | ***:'''Note (2):''' Absence of [[genitourinary tract]] [[bleeding]] should be ensured as inhibition of [[fibrinolysis]] may lead to an [[obstructive nephropathy]]. | ||
** '''1.2 Vasopressin analogues''' | ** '''1.2 Vasopressin analogues''' | ||
**:*Preferred treatment (1): Deamino-8-D-arginine vasopressin (DAVPP) | **:*Preferred treatment (1): [[Vasopressin analogue|Deamino-8-D-arginine vasopressin]] (DAVPP) | ||
**::'''Note (1):''' Deamino-8-D-arginine vasopressin (DDAVP) administration carries the risk of [[Hypervolemia|fluid overload]] and [[hyponatremia]] in the setting of i.v. [[glucose]] administration and must be used with caution in GSD type 1 patients. | **::'''Note (1):''' [[Vasopressin analogue|Deamino-8-D-arginine vasopressin]] (DDAVP) administration carries the risk of [[Hypervolemia|fluid overload]] and [[hyponatremia]] in the setting of i.v. [[glucose]] administration and must be used with caution in GSD type 1 patients. | ||
===Therapeutic strategies for neutropenia=== | ===Therapeutic strategies for neutropenia=== | ||
* '''1. Treatment of neutropenia''' | * '''1. Treatment of neutropenia''' | ||
** '''1.1 Granulocyte colony stimulating factor (G-CSF)''' | ** '''1.1 Granulocyte colony stimulating factor (G-CSF)''' | ||
**:*Preferred treatment (1): [[Granulocyte colony stimulating factor|G-CSF]] SC 1.0 μg/kg q24h daily or every other day | **:*Preferred treatment (1): [[Granulocyte colony stimulating factor|G-CSF]] ([[Neupogen]]) SC 1.0 μg/kg q24h daily or every other day | ||
** '''1.2 Antioxidants''' | ** '''1.2 Antioxidants''' | ||
**:* Preferred treatment (1): Vitamin E supplementation<ref name="pmid19066956">{{cite journal| author=Melis D, Della Casa R, Parini R, Rigoldi M, Cacciapuoti C, Marcolongo P et al.| title=Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b. | journal=Eur J Pediatr | year= 2009 | volume= 168 | issue= 9 | pages= 1069-74 | pmid=19066956 | doi=10.1007/s00431-008-0889-5 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19066956 }} </ref> | **:* Preferred treatment (1): [[Vitamin E|Vitamin E supplementation]]<ref name="pmid19066956">{{cite journal| author=Melis D, Della Casa R, Parini R, Rigoldi M, Cacciapuoti C, Marcolongo P et al.| title=Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b. | journal=Eur J Pediatr | year= 2009 | volume= 168 | issue= 9 | pages= 1069-74 | pmid=19066956 | doi=10.1007/s00431-008-0889-5 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19066956 }} </ref> | ||
==References== | ==References== | ||
Latest revision as of 14:11, 9 April 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 management of glycogen storage disease type 1 (GSD type 1) is divided into nutritional therapy and pharmacologic management of systemic complications. The primary concern in infants and young children with GSD type 1 is hypoglycemia. Small frequent feeds high in complex carbohydrates (preferably those high in fiber) are administered at regular intervals throughout 24 hours for the prevention of hypoglycemia. Sucrose (fructose and glucose) and lactose (galactose and glucose) may be limited or avoided. Solid food is introduced at the time of 4 - 6 months. Infant cereals are started followed by vegetables and then by meat.The preferred treatment for young child is cornstarch (CS); which may be used alone or by mixing it with sucrose-free, fructose-free, lactose-free infant formula, sugar-free soy milk, sugar-free drinks, and/or water. Other treatment strategies are directed towards management of hypocitraturia, hypercalcemia, proteinuria, platelet dysfunction, and neutropenia.
Medical Therapy
The medical management of glycogen storage disease type 1 (GSD type 1) is divided into nutritional therapy and pharmacologic management of systemic complications.[1][2][3]
- The primary concern in infants and young children with GSD type 1 is hypoglycemia.
- So, the first line treatment for GSD type 1 is the prevention of hypoglycemia.
- Small frequent feeds high in complex carbohydrates (preferably those high in fiber) are distributed evenly throughout 24 hours for the prevention of hypoglycemia.
- A metabolic dietician should be consulted once a case of GSD type 1 is diagnosed.
- Distribution of calories:
- Calories from carbohydrate: 60-70%
- Calories from protein: 10-15%
- Calories from fats: Remaining calories (<30% for children older than 2 years)
- Sucrose (fructose and glucose) and lactose (galactose and glucose) may be limited or avoided.
- Good metabolic control help to prevent complications in patients with GSD type 1.[4][5]
Nutritional Therapy
- 1. Infants
- 1.1 Formula and enteral feedings
- 1.1.1 Infant sleep <3-4 hours
- 1.1.2 Infant sleep >3-4 hours
- Preferred treatment (1): Overnight gastric feedings (OGFs)
- Preferred treatment (2): Wake up infant q3h - q4h; monitor blood glucose and offer feeding
- Note (1): As hypoglycemia in GSD type 1 can be life-threatening and may cause seizures, permanent brain damage and even death, training of the parents (and/or child, when older) in inserting a nasogastric (NG) tube or that a G-tube be surgically placed is recommended, so that there is always access to treat for hypoglycemia, especially during times of illness or refusal to eat.
- Note (2): A G-tube may not be a good option in patients of GSD type 1b with neutropenia as it increases the risk of recurrent infections at the surgical site. Granulocyte colony-stimulating factor (G-CSF or Neupogen) should be administered before placing a G-tube if the child has neutropenia.
- Note (3): Blood glucose level should be maintained at more than 70 mg/dl or 4 mmol/l.
- Note (4): Feeding regimen are decided on a case by case basis.
- Note (5): The rate of the continuous tube feeding should be calculated to provide a glucose infusion rate of:[6][7][8]
- Note (6): Infant should be immediately fed after discontinuing tube feedings in order to avoid a rapid decrease in blood glucose due to high circulating insulin levels.
- Note (7): It is advisable to use safety precautions such as bed-wetting devices (to detect formula spilling onto the bed), infusion pump alarms, safety adapters, connectors, and tape for tubing to detect pump failure and occluded or disconnected tubing. These events may lead to hypoglycemia, seizures, and even death.[9]
- 1.2 Introducing solid food
- 1.1 Formula and enteral feedings
- 2. Young child
- Preferred treatment (1): Cornstarch (CS) - 1.6 g of CS/Kg of body weight q3h - q4h for young children, and 1.7–2.5 g CS/kg q4h - q5h (sometimes q6h) for older children, adolescents, and adults.[10][11][12]
- Note (1): CS may also be used by mixing it with sucrose-free, fructose-free, lactose-free infant formula, sugar-free soy milk, sugar-free drinks, and/or water.
- Note (2): Optimal nutrition at a young age may help prevent or delay some of the long-term complications of the disease. Therefore, the focus of the diet must exceed simply preventing and treating hypoglycemia. The following table summarizes the food allowed and foods not allowed in GSD type 1.
| Food group | Foods allowed | Foods not allowed |
|---|---|---|
| Dairy |
Limited to one serving per day:
|
|
| Cereals |
|
|
| Breads |
|
|
| Starches |
|
|
| Vegetables |
All nonstarchy vegetables including:
|
|
| Fruits |
|
|
| Meat |
|
|
| Legumes or nuts |
|
|
| Soups |
|
|
| Fats |
|
|
| Sweets |
|
|
| Adapted from Genetics in Medicine[1][13] | ||
Therapeutic strategies for renal tubular dysfunction
- 1. Treatment of Hypocitraturia
- 1.1 Oral citrate supplementation
- 1.1.1 Young children
- Preferred treatment (1): Liquid potassium citrate 1 mEq/kg q24h in three divided doses
- 1.1.2 Older children and adults
- Preferred treatment (1): Potassium citrate tablets 10 mEq q24h in three divided doses
- Note (1): Citrate should be used cautiously and monitored as it may cause hypertension and hyperkalemia. Hyperkalemia can be life-threatening in the setting of renal impairment.
- 1.1.1 Young children
- 1.1 Oral citrate supplementation
- 2. Treatment of Hypercalciuria
- 2.1 Thiazide diuretics
- 1.1.1 Young children
- Preferred treatment (1): Chlorthalidone (liquid preparation)
- 1.1.2 Older children and adults
- Preferred treatment (1): Hydrochlorothiazide (tablets)
- Note (1): Interval urinary calcium-to-creatinine ratios are used to monitor the efficacy of therapy.
- 1.1.1 Young children
- 2.1 Thiazide diuretics
- 3. Treatment of Proteinuria[14][15]
- Preferred treatment (1): Angiotensin receptor blocker
- Preferred treatment (2): Angiotensin converting enzyme inhibitor
Therapeutic strategies for platelet dysfunction
- 1. Treatment of platelet dysfunction/von Willebrand disease[16]
- 1.1 Antifibrinolytics
- 1.1.1 For oral hemorrhage
- Preferred treatment (1): ɛ-aminocaproic acid (Amicar), “swish for 30 seconds and spit” 1.25 g q6h
- 1.1.2. For more severe mucosal-associated bleeding
- Preferred treatment (1): ɛ-aminocaproic acid (Amicar), an i.v. bolus of 4 g in 250 ml of D5W/NS infused over 1 hour followed by a drip of 1 g/h (50 ml/h) for 8 hours or until bleeding is controlled is needed.
- Alternative treatment (1): ɛ-aminocaproic acid (Amicar), PO 5g in first hour, followed by 1 g/h orally for 8 h or until hemorrhage is controlled (if i.v. form is unavailable).
- Note (1): Contraindications of Amicar include individuals with disseminated intravascular coagulation and if activated prothrombin complex concentrate (FEIBA) has been used.
- Note (2): Absence of genitourinary tract bleeding should be ensured as inhibition of fibrinolysis may lead to an obstructive nephropathy.
- 1.1.1 For oral hemorrhage
- 1.2 Vasopressin analogues
- Preferred treatment (1): Deamino-8-D-arginine vasopressin (DAVPP)
- Note (1): Deamino-8-D-arginine vasopressin (DDAVP) administration carries the risk of fluid overload and hyponatremia in the setting of i.v. glucose administration and must be used with caution in GSD type 1 patients.
- 1.1 Antifibrinolytics
Therapeutic strategies for neutropenia
- 1. Treatment of neutropenia
- 1.1 Granulocyte colony stimulating factor (G-CSF)
- 1.2 Antioxidants
- Preferred treatment (1): Vitamin E supplementation[17]
References
- ↑ 1.0 1.1 Kishnani, Priya S.; Austin, Stephanie L.; Abdenur, Jose E.; Arn, Pamela; Bali, Deeksha S.; Boney, Anne; Chung, Wendy K.; Dagli, Aditi I.; Dale, David; Koeberl, Dwight; Somers, Michael J.; Burns Wechsler, Stephanie; Weinstein, David A.; Wolfsdorf, Joseph I.; Watson, Michael S. (2014). "Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics". Genetics in Medicine. doi:10.1038/gim.2014.128. ISSN 1098-3600.
- ↑ Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP; et al. (2002). "Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I)". Eur J Pediatr. 161 Suppl 1: S112–9. doi:10.1007/s00431-002-1016-7. PMID 12373584.
- ↑ Goldberg T, Slonim AE (1993). "Nutrition therapy for hepatic glycogen storage diseases". J Am Diet Assoc. 93 (12): 1423–30. PMID 8245377.
- ↑ Chen YT, Scheinman JI, Park HK, Coleman RA, Roe CR (1990). "Amelioration of proximal renal tubular dysfunction in type I glycogen storage disease with dietary therapy". N Engl J Med. 323 (9): 590–3. doi:10.1056/NEJM199008303230907. PMID 2199830.
- ↑ Wolfsdorf JI (2002). "Bones benefit from better biochemical control in type 1 glycogen storage disease". J Pediatr. 141 (3): 308–10. doi:10.1067/mpd.2002.127504. PMID 12219049.
- ↑ Bier DM, Leake RD, Haymond MW, Arnold KJ, Gruenke LD, Sperling MA; et al. (1977). "Measurement of "true" glucose production rates in infancy and childhood with 6,6-dideuteroglucose". Diabetes. 26 (11): 1016–23. PMID 913891.
- ↑ Tsalikian E, Simmons P, Gerich JE, Howard C, Haymond MW (1984). "Glucose production and utilization in children with glycogen storage disease type I." Am J Physiol. 247 (4 Pt 1): E513–9. PMID 6388348.
- ↑ Schwenk WF, Haymond MW (1986). "Optimal rate of enteral glucose administration in children with glycogen storage disease type I." N Engl J Med. 314 (11): 682–5. doi:10.1056/NEJM198603133141104. PMID 3081806.
- ↑ Leonard JV, Dunger DB (1978). "Hypoglycaemia complicating feeding regimens for glycogen-storage disease". Lancet. 2 (8101): 1203–4. PMID 82169.
- ↑ Bhattacharya K, Orton RC, Qi X, Mundy H, Morley DW, Champion MP; et al. (2007). "A novel starch for the treatment of glycogen storage diseases". J Inherit Metab Dis. 30 (3): 350–7. doi:10.1007/s10545-007-0479-0. PMID 17514432.
- ↑ Chen YT, Cornblath M, Sidbury JB (1984). "Cornstarch therapy in type I glycogen-storage disease". N Engl J Med. 310 (3): 171–5. doi:10.1056/NEJM198401193100306. PMID 6581385.
- ↑ Sidbury JB, Chen YT, Roe CR (1986). "The role of raw starches in the treatment of type I glycogenosis". Arch Intern Med. 146 (2): 370–3. PMID 3456223.
- ↑ Kilpatrick L, Garty BZ, Lundquist KF, Hunter K, Stanley CA, Baker L; et al. (1990). "Impaired metabolic function and signaling defects in phagocytic cells in glycogen storage disease type 1b". J Clin Invest. 86 (1): 196–202. doi:10.1172/JCI114684. PMC 296707. PMID 2164043.
- ↑ MacKinnon M, Shurraw S, Akbari A, Knoll GA, Jaffey J, Clark HD (2006). "Combination therapy with an angiotensin receptor blocker and an ACE inhibitor in proteinuric renal disease: a systematic review of the efficacy and safety data". Am J Kidney Dis. 48 (1): 8–20. doi:10.1053/j.ajkd.2006.04.077. PMID 16797382.
- ↑ Melis D, Parenti G, Gatti R, Casa RD, Parini R, Riva E; et al. (2005). "Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study". Clin Endocrinol (Oxf). 63 (1): 19–25. doi:10.1111/j.1365-2265.2005.02292.x. PMID 15963056.
- ↑ Marti GE, Rick ME, Sidbury J, Gralnick HR (1986). "DDAVP infusion in five patients with type Ia glycogen storage disease and associated correction of prolonged bleeding times". Blood. 68 (1): 180–4. PMID 3087438.
- ↑ Melis D, Della Casa R, Parini R, Rigoldi M, Cacciapuoti C, Marcolongo P; et al. (2009). "Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b". Eur J Pediatr. 168 (9): 1069–74. doi:10.1007/s00431-008-0889-5. PMID 19066956.