Treatment algorithm

Please note that formulations/routes and doses may differ between drug names and brands, drug formularies, or locations. Treatment recommendations are specific to patient groups: see disclaimer

ONGOING

all patients

1st line – ongoing supply of dietary glucose and fats

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ONGOING
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all patients
1st line – 

ongoing supply of dietary glucose and fats

Orally administered uncooked cornstarch is the mainstay of therapy from early childhood and through adulthood. Uncooked cornstarch is given to infants as soon as it can be tolerated, replacing frequent daytime feedings of glucose or glucose polymers and overnight continuous intragastric infusion of glucose. It has been used successfully in infants as young as ages 8 months.[14][15][16]​ Although pancreatic amylase activity reaches adult levels at ages 2 to 4 years, it can be stimulated by starches. Careful exposure and dose increase can be attempted after ages 6 months, and has been successfully described at ages 1 to 2 years.[17]

Uncooked cornstarch is given as a slurry with water or artificially sweetened beverage, or in infant formula, at 3- to 5-hour intervals during the day and 4- to 6-hour intervals overnight. The amount required varies among individual patients, though approximately 0.5 g/kg/hour should be given in infants. An initial approximation is calculated by multiplying the time interval between feeds by the hourly glucose requirement for ideal body weight. An estimate of the minimum glucose requirement may be obtained by calculating each patient's basal glucose production rate using their ideal body weight. The average rates of basal glucose production in the fasting state in infants, toddlers, children, and adolescents are approximately 7, 6, 5, and 3 mg/kg/minute, respectively.

One tablespoon (8 g) of uncooked cornstarch contains 7.3 g of carbohydrate. Although commonly performed, dosing in this manner leads to a lack of precision, and weighing cornstarch by weight on a gram scale instead of estimations by volume is preferred. The optimum schedule and amounts of intermittent uncooked cornstarch feedings for patients of different ages is determined empirically by metabolic monitoring to ensure that the biochemical goals are achieved.[14][15]

Careful consideration should be taken when choosing between continuous nocturnal gastric drip-feeding and nocturnal cornstarch regimen.[18]​

Dosing of extended-release cornstarch needs an individualized approach (e.g., 120 g at bedtime for a prepubertal child, 135 g to 150 g for a pubertal adolescent, and 135 g for an adult). Because the response can be variable, therapy should be initiated with careful biochemical monitoring.

Dietary fat should be restricted to about 20% of the total energy intake, equally distributed among monounsaturated, polyunsaturated, and saturated fats, and cholesterol intake restricted to <300 mg/day.

Plus – emergency dextrose infusion

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ONGOING
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all patients
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with acute hypoglycemia
Plus – 

emergency dextrose infusion

Treatment recommended for ALL patients in selected patient group

Correct acute hypoglycemia by giving dextrose (intravenously or enterally). Once hypoglycemia is corrected, the dextrose infusion should continue to maintain euglycemia. Fluids containing 10% dextrose at or above a maintenance rate are usually sufficient for these infusions.[1]​ Glucagon should not be used.

Plus – formula feeds

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ONGOING
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all patients
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infants
Plus – 

formula feeds

Treatment recommended for ALL patients in selected patient group

Feed frequently (variance between 1 to 3 hours) with formula that does not contain lactose or sucrose. The formula must contain a polymer of glucose (corn syrup solids or maltodextrins) that will yield, after digestion, an amount of glucose sufficient to maintain euglycemia (typically at least 6 to 8 mg/kg/minute). If night-time feeds are a problem continuous overnight feeding using the same formula may be given via an nasogastric or gastrostomy tube using an infusion pump.[14][15]

Plus – xanthine oxidase inhibitor

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ONGOING
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all patients
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with unresolved hyperuricemia
Plus – 

xanthine oxidase inhibitor

Treatment recommended for ALL patients in selected patient group

Although clinically significant hyperuricemia (>7 to 8 mg/dL) usually resolves when adequate exogenous glucose is provided, if hyperuricemia persists, a xanthine oxidase inhibitor (e.g., allopurinol) should be given. This lowers serum uric acid to normal levels.

Primary options

allopurinol: children: 10 mg/kg/day orally given in 3 divided doses, maximum 300 mg/dose and 800 mg/day; adults: 300-800 mg/day orally given in 2-3 divided doses

Plus – lipid-modifying drugs

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ONGOING
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all patients
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with unresolved hyperlipidemia
Plus – 

lipid-modifying drugs

Treatment recommended for ALL patients in selected patient group

Hyperlipidemia should improve when adequate exogenous glucose is provided. Lipid-modifying agents (e.g., fenofibrate) are used when persistent severe hypertriglyceridemia, despite optimal glucose therapy, poses a significant risk of acute pancreatitis.[20]

Primary options

fenofibrate: children: consult specialist for guidance on dose; adults: 40-160 mg orally once daily

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Plus – elective liver transplantation

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ONGOING
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all patients
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with hepatic dysfunction or multiple adenomas
Plus – 

elective liver transplantation

Treatment recommended for ALL patients in selected patient group

Liver transplantation should be considered if there is severe hepatic dysfunction or multiple adenomas deemed to be at high risk of undergoing malignant transformation.[1]​ However, liver transplantation has the potential to significantly improve the quality of life for patients and their families. Benefits of transplantation must be carefully weighed against risks of surgery and immunosuppression.[22][23]

Plus – vitamin E supplementation

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ONGOING
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all patients
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with GSD type Ib
Plus – 

vitamin E supplementation

Treatment recommended for ALL patients in selected patient group

Vitamin E (alpha-tocopherol) supplementation has been described to increase neutrophil count and improve their in vitro function, and is associated with decreased frequency and severity of infections.[24]

Primary options

alpha-tocopherol (vitamin E): prepubertal patients: 600 mg orally once daily; adults: 900 mg orally once daily

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Please note that formulations/routes and doses may differ between drug names and brands, drug formularies, or locations. Treatment recommendations are specific to patient groups. See disclaimer

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