Glycogen storage disease type I medical therapy
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Medical Therapy
The medical management of GSD is divided into nutritional therapy and medical management of systemic complications.[1]
- 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.
Nutritional Therapy
- 1. Infants
- 1.1 Formula and enteral feedings
- 1.1.1 Infant sleep <3-4 hours
- Preferred treatment (1): Soy-based formula, fed on demand q2h – q3h
- Preferred treatment (2): Sugar-free formula, fed on demand q2h – q3h
- Preferred treatment (3): A formula that is free of sucrose, fructose, and lactose; fed on demand q2h – q3h
- 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 so that there is always access to treat for hypoglycemia, especially during times of illness or refusal to eat is recommended.
- Note (2): A G-tube may not be a good option in patients with GSD type 1b and neutropenia as it increases the risk of recurrent infections at the surgical site. Granulocyte colony-stimulating factor (G-CSF) (Neupogen) is 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
- In infancy: 8–10 mg glucose/kg/min
- In older children: 4–8 mg glucose/kg/min
- 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.
- 1.1.1 Infant sleep <3-4 hours
- 1.2 Introducing solid food
- Note (1): Introduced at the time of 4 - 6 months. Infant cereals are started followed by vegetables and then by meat.
- Note (2): Fruits, juice, and other sucrose-containing, fructose-containing, and lactose-containing foods are limited or avoided.
- 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.
- 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 |
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Dairy |
Limited to one serving per day:
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Cereals |
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Breads |
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Starches |
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Vegetables |
All nonstarchy vegetables including:
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Fruits |
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Meat |
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Legumes or nuts |
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Soups |
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Fats |
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Sweets |
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Adopted from Genetics in Medicine[1] |
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 Hypocitraturia
- 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[2][3]
- 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[4]
- 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 fibrinolysos may lead to an obstructive nephropathy.
- 1.1.1 For oral hemorrhage
- 1.1 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
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.
- ↑ 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.