Nutrition Case study of Maple Syrup Urine Disease GB is the second born child of a Lebanese family. He has an older sister who is normal. He was born after an uncomplicated pregnancy and labor. His birth weight is 3.2kg. He seemed normal and had no immediate neonatal complications. He fed well and was alert. At 7 days of age, GB stopped sucking and became lethargic. He was readmitted to the hospital. He was afebrile but had 3 episodes of apnea. The mother noticed that there was a sweet odor of the urine. Blood test and urine AA chromatography on 24-h urine collection were done. Normal plasma (mg/100mL) Plasma (mg/100ml) Patient urine (mg/24h) Leucine 1.5-3.0 57.49 Too high to read Isoleucine 0.8-1.5 14.10 41.1 Valine 2.0-3.0 14.76 77.28 Thus, GB was diagnosed with Maple Syrup Urine Disease. Thiamin responsiveness was evaluated: 510mg/kg/d of oral thiamin were prescribed for a period of 3 weeks. No improvement was noticed. GB was put from first day on BCAA-free diet. Part 1 1-Assess the patient. 2-Calculate energy, protein and BCAA needs. 3-Translate the prescription into diet with Similac and MSUD Analog (composition shown in Table below).
Nutrition Case study of Maple Syrup Urine Disease
GB is the second born child of a Lebanese family. He has an older sister who is normal. He was born after an uncomplicated pregnancy and labor. His birth weight is 3.2kg. He seemed normal and had no immediate neonatal complications. He fed well and was alert. At 7 days of age, GB stopped sucking and became lethargic. He was readmitted to the hospital. He was afebrile but had 3 episodes of apnea. The mother noticed that there was a sweet odor of the urine. Blood test and urine AA chromatography on 24-h urine collection were done.
|
|
Normal plasma (mg/100mL) |
Plasma (mg/100ml) |
Patient urine (mg/24h) |
|
Leucine |
1.5-3.0 |
57.49 |
Too high to read |
|
Isoleucine |
0.8-1.5 |
14.10 |
41.1 |
|
Valine |
2.0-3.0 |
14.76 |
77.28 |
Thus, GB was diagnosed with Maple Syrup Urine Disease. Thiamin responsiveness was evaluated: 510mg/kg/d of oral thiamin were prescribed for a period of 3 weeks. No improvement was noticed. GB was put from first day on BCAA-free diet.
Part 1
1-Assess the patient.
2-Calculate energy, protein and BCAA needs.
3-Translate the prescription into diet with Similac and MSUD Analog (composition shown in Table below).
Step by step
Solved in 4 steps
