Student Presenters: Beth Rohling & Lusi MartinPublic Health Nutrition Students

University of Tennessee at Knoxville

Many forms of GSD type 1 (von Gierke’s disease) :

Type 1a through e

Major forms: Type 1a and 1b

Genetic metabolic disorder of the liver

Inability to breakdown glycogen to glucose

Glycogen is a storage form of glucose in the body

At risk for hypoglycemia

Definition

Type 1a

▪ Deficiency of (or defect in) glucose-6-phosphatase ▪ Normally found in liver, kidney, and intestine

Type 1b

▪ Defect in glucose-6-phosphate translocase▪ Affects transfer of glucose-6-phosphate into ER

Glycogen

Glucose-1-P

Glucose-6-P

Fructose-6-P

Fructose-1,6-P

PyruvateLactate Alanine

Acetyl-CoA

Fatty Acids

Triacylglycerols

Cholesterol

Glucose-6-phosphatase

Glucose

Adenine

Inosine

Uric Acid

ER

Hepatic Glycogen Metabolism in GSD 1

To identify deficiency of enzyme or microsomal translocase systems

Liver biopsy

DNA analysis

Note: CANNOT use cultured skin fibroblasts or blood for enzyme diagnosis because glucose- 6- phosphatase is not present in these cell types

Autosomal recessive disease A 25% chance that their child will develop the disorder

A 50% chance that their child will receive one defective gene from one of the parents, which means the child will not show symptoms of the disorder but is a "carrier"

A 25% chance their child will receive both normal genes, one from each parent, and will not have a GSD

Usually in the first year after birth

Hypoglycemia

Hepatomegaly

Growth retardation

Bleeding tendency

Severe neutropenia

Hyperlacticacidemia

Hyperuricemia

Hypertriacylglycerolemia

Hypercholesterolemia

Lack of newborn screening

GSD Type 1 is unlikely to occur more frequently than 1 case in 50,000 infants

In the past has been poor: Muscle wasting

Stunted growth

Death

With nutrition support: Proven beneficial

Well-controlled patients

Normal blood glucose concentration

Normal linear growth

Even with good metabolic control: Renal insufficiency

Hyperlipidemia

Diagnostic evaluation is most safely performed in a hospital, especially in infants, because of the potential for severe hypoglycemia

Many untreated children are admitted by a hematologist or gastroenterologist for the diagnosis of massive hepatomegaly

Young infants require continuous nasogastric tube feedings to sustain blood sugar levels

Older children can usually be switched to raw cornstarch feedings, which sustain blood glucose values for 4 – 6 hours

Large quantities for raw cornstarch may be necessary, because overall use of this material is impaired in patients compared with healthy control subjects

To correct primary imbalance in metabolic relationships

i. Maintain normal BG concentration by providing frequent complex dietary carbohydrate (CH2O)

ii. Maintain normal BG concentration throughout day and night to ameliorate secondary biochemical abnormalities

Note: Therapy is designed to provide just enough hepatic glucose for normal glycogenolysis and gluconeogenesis while keeping BG levels in an acceptable range.

To help maximize blood sugar and lactic acid control, nutrition and energy

Carbohydrate: - Complex vs. Simple Sugars- Combination of taking cornstarch and eating complex carbs with each meal is important to maintain appropriate blood sugar levels

Note: Complex Carbs should be avoided if they contain added sugar such as dried fruits and honey.

Complex Carbohydrate: breads, cereals, grains, rice, pasta, crackers, beans (garbanzo, pinto, kidney)

Simple sugars include: Glucose, Galactose (dairy, sugar), Lactose (galactose + glucose), Fructose (fruit sugar) and Sucrose (fructose + glucose)

SUGARS ALLOWED

Glucose Dextrose Maltose Maltodextrin Dextrin Pure Corn Syrup Corn Syrup Solids Karo dark corn syrup 98% glu Karo light syrup 97% glu Karo pancake syrup 94% gluc

SUGARS NOT ALLOWED

Fructose (natural sugar found in fruit) also a component of sucrose

Galactose (a component of lactose), Lactose (sugar found in milk)

Sucrose (common “table sugar”) Honey High Fructose Corn Syrup Corn Syrup (contains fructose) Brown Sugar Invert Sugar Powdered sugar, confectioners

sugar Maple Sugar Molasses Sorghum

Fruits contain fructose and should be avoided. If consumed, it should be in very small amounts and should not be consumed in a meal that includes foods that contain galactose

Vegetables are lower in sugar and low in calories and should be eaten. However it is necessary to avoid using more than 2 packets of ketchup at a time and limiting tomato/marinara sauces on foods to no more than ¼ cup per meal because of the fructose in the tomato

Milk/Dairy is usually limited to ½ serving (4 oz of milk or 1 oz of cheese) of a low fat dairy product per day. Use soymilk with caution due to added sugar.

Most meat dishes are low in sugar. Avoid meats cooked in sweet sauces

Dietary fat limited to 20% of total daily calories with equal distribution between monoun, polyun, and saturated fats. Cholesterol should be limited to <200mg/dL

Avoid beverages that contain fructose, lactose or extra calories should be avoided

• Restrictions require supplementation

- Multi-vitamin (avoid taking together with iron & multivitamin)

- Calcium

Note: Calcium is better absorbed with food

Calcium Supplement and Multivitamin Suggestion in Type 1 GSD

Calcium supplement suggestions • UpCal D (powder) - Global Health Products• Cal-Quick (liquid) –Twin Lab• Calci-Mix (powdered capsule) – Watson Pharmaceuticals• CitraCal (tablet) or any type of calcium citrate•Tums (tablet) - available in sugar free• Calcium Carbonate

Multivitamin suggestion • One-A-Day (sugar-free, children’s and adult varieties available) or generic equivalent• Flinstone’s complete (sugar-free available)• Centrum or generic equivalent.

Most significant problem is metabolic acidosis precipitated by minor illnesses

If vomiting illness persists child should be seen and assessed for dehydration, acidosis, and hypoglycemia

Gender: Female- Full term: 7 lbs 6oz

Age: 11 yrs 1 month

Height: 126.9 cm (50in)

Weight: 31.3 kg (68.9lbs)

10-25th %ile wt for age

<3rd %ile ht for age

Height age: 7 yrs 10 mths

Exp wt for ht: 25.5kg (56.1lbs)

%ile BMI for age: 50 – 75th %ile

Evaluation:Short stature, above exp wt for ht, resulting in higher BMI

Emily Marsh

Mother, Father, & Two Full Siblings living in the home

No family history of GSD

Insurance through Aetna

Diagnosed with GSD type 1a 3 months of age

Generally healthy & no dental problems

No known allergies

Medication: Zantac 75mg

Lab Test Lab Value Normal Range

Glc 88 65 - 100

Uric acid 7.8mg/dL 3 – 8.7 mg/dL

Lactic acid 2.6mg/dL H 0.4 – 2.0mg/dL

Cholesterol 302mg/dL H < 200mg/dL

Gamma GT 39U/L 8 – 78 U/L

TG 913 mg/dL H < 150 mg/dL

Prealbumin 30.6 mg/dL 17 – 34 mg/dL

Evaluation:

1. Elevated TG level: Common to GSD1

2. Elevated Cholesterol: Common to GSD1

3. Elevated Lactic acid: Common to GSD1

Vitamin/Mineral supplement (2 tablets/daily)

Formula:

60g Elecare

2.5 Tbsp Soy Protein Isolate

8 Tbsp Cornstarch

1tsp CalQuick

All mixed w/ water to a total volume of 16 fl oz

Chooses foods off of school menu

Mother concern for high CHO & limited vegetable choices

Mother is concern for low BG in the mornings and lunch hours

Good appetite

3 Day Food Record provided

Intake (3 day avg) Prescribed

Calories (kcals) 1720 1627

Protein (g) 43.0 (9%) 52 (13%)

Fat (g) 54 (28%) 41 (23%)

Carbohydrate (g) 260 (60%) 258 (64%)

Calcium (mg) 510** 1300

** Calculated without CalQuick. Approximately 885mg when calculated

with ¾ tsp Calquick.

Impaired nutrient utilization (P) related to diagnosis of GSD type 1A (E) as evidenced by altered lab value (S)

Hypoglycemia

Hepatomegaly

Short stature

Lactic acidemia

Hypertrigylceridemia

ICD- 9 Code: 271.0

Increase protein intake to meet prescribed diet to prevent muscle wasting & promote growth

Limit dietary intake to prescribed levels to improve plasma TG & cholesterol values

Take calcium supplements regularly as prescribed to promote bone health and growth

Assessing food intake

Diet Prescription

Nutrition Education

Support

Monitoring & Evaluating Progress

Questions???