Question

Case: Genetic Disorder of GLUT 1 Deficiency Syndrome Background: Nadia, a 6-year-old White female, has been to admitted to Children's National Hospital with parental c/o frequent episodes of seizures 1-2 times every other day for the past month. Parents report that she has been lethargic and having difficulty concentrating in school, and issues with age-appropriate articulation of speech, during this period. Prior to this admission, patient has been seen by her PCP as medical diagnosis remained undetermined. On admission, the pediatric neurologist was consulted for an evaluation. He orders a series of tests including an EEG, blood glucose concentration of cerebral spinal fluid as well as genetic variants of SLCAL. Findings are consistent with epilepsy in relation to a pathological variant of SLC2Al gene expression Medical Hx: Pre-term birth (28 weeks) Medications/Supplements: Daily MVI Demographics: Lives in metro area suburb with her parents, mother age 36 and father age 34 and twin male siblings who are 8 years of age. Ethnic/religious practice of family is Jewish German. Parents immigrated from Germany 12 years ago. Height: 43 inches Admission Body Weight: 20.3 kg Usual Body Weight: Dietary Intake Hx: Usual Pattern Breakfast • Slice of wheat toast w/ 1 tsp strawberry jam • 2 boiled egg whites • 1 small apple, sliced cup hummus, and / cup shredded carrots and Lunch • W whole wheat pita sandwich w/ cucumber. • 1 oz. raisins • Medium orange • 8-oz apple juice Dinner • • • • • 1 cup spaghetti 1 slice garlic bread and 1 tsp. butter 1 cup tomato sauce w/2 oz. lean ground turkey 1 cup cooked broccoli 1 cup tossed salad w/ 1 tsp. Italian dressing

Answer 1

1) GLUT 1 is the major transporter of glucose across the blood brain barrier . Due to mutation of SLC2A1 gene there is deficient synthesis of GLUT 1 ,, thus the source of energy to the central nervous system is reduced which causes starvation ,, and retards the normal growth development and function .

• It presents with seizures in 90 % cases
• Unusual eye head movements in infancy
• Movement disorders, speech and language disorders and delayed development milestones.  
• Absent seizures are present before age of 3 . And the seizures are resistant to treatment .
• Intellectual disability
• Symptoms worsen after waking up and improves after eating .
• Due to starvation of the brain cells it leads to microcephaly in some individuals

3). CURRENT NUTRITION THERAPY

• when diagnosed early the main treatment is KETOGENIC DIET. Which will help to resolve the worsening symptoms like seizure , but it has very less role in cognition .
• Ketogenic diet has high fat content, moderate protein, and low carbohydrate .
• Additionally anticonvulsants must also be given in these individuals.  
• This diet is continued till puberty and even has a good prognosis in adults .
• But the individuals must be carefully monitored .
• Supplements of vitamins and protein is also given to meet the needs of the developing stage .

4). The average body weight of a 6 yr female is 20 kg and height is 45 inches .

Bmi of this patient is 17.1 . Where her height is 2 inch less according to WHO .

5) ACCORDING TO FAO ( food agricultural organization) energy that should be intaken for this girl is 1620 kcal / day and the requirement is 1700 kcal / day.

Protein requirement is 1.01g / kg body weight should be taken.

6). Foods to be avoided :

• Sugars : fruit juices , cakes , candy  
• Grains like wheat , barley, rice
• Banana, carrot , tunips , oranges which have a high carb  diet that it has a low glycemic index.  
• Legumes and starch  

In the above case the girl takes a diet that is rich in carbohydrates ,, it must be avoided and a diet rich in fat and protein must be given .

7). The nutritional problem in following a ketogenic diet is

• It is not advisable for children who has other metabolic disorders, since it can produce weight loss , diarrhoea and constipation due to high cholesterol levels.  
• Balancing the diet is essential since it is not a natural one . The vitamins and other supplements must be given properly for the good prognosis of the patient.  

8) how the ketogenic diet works is ,, since it is free of carbohydrates the body thinks it is in the state of starvation and utilizes the fat and produce ketones which acts as the fuel for metabolism

9). Usually the ketogenic diet should include

• Meats such as beef , pork , lamb , bacon
• Fatty fish and seafood
• Eggs
• fat diary products like yoghurt , butter , cheese .
• Low Carbs like spinach , broccoli .
• Almonds , walnuts , macadamia nuts .

10 ) . The follow up must be

• After The start of ketogenic diet regular diet , nutritional assessment and eeg must be done atleast 3 times a year .
• Blood and metabolic assessment must be done regularly
• Cognitive and developmental functions should be assessed  
• Ketogenic diet have a mild consequence on cardio vascular system , hence it should be monitored properly
• Mostly ketogenic diet has a very good impact and it can also be continued even in adulthood.