Wednesday, December 9, 2009

Medical Information for GAMT Families

John's Weight since Infancy
7-13-08 (1 month)------ 12.2 lbs
8-6-08 (2 months)------11 lb 15 oz -------50%
9-10-08 (3 months)-----13 lbs 15 oz
10-2-08 (4 months)-----14 lbs 1 oz--------25%
12-2-08 (6 months)-----16 lbs 7 oz--------25%
3-1-09(9 months)------ 18 lbs 1 oz---------5% (big weight drop)
7-2-09 (13 months)-----18 lbs 14 oz ----- less than 3%
We started his treatment at the 13 month old visit
9-2-09 (15 months)-----20 lbs 15oz-----6% (weight back on chart)
12-9-09 (18 months) ---23.5 lbs ------30% (weight back up)


John's Height & Head Circumference
Both of these numbers have been fine since infancy. They have fluctuated from 90% to 50%, but never went below 50%. As of 12-9-09 his height is 32.25 (50%) and head circumference is 19.25 (75%).


6-5-09 - MRI performed at ECU and blood & urine samples drawn. Blood & Urine sent to Duke for processing. MRI revealed abnormal signals in the globus pallidus.
6-15-09 - Urine organic acids completed at Duke revealed general elevation of metabolites relative to creatinine, suggestive of a possible creatine synthesis disorder.
6-22-09 - creatine & guanidinoacetate levels were measured in urine and plasma and were consisten with GAMT deficiency (elevated guanidinoacetate and low creatine)


Medical literature that is being followed to use in John's treatment. "Presymptomatic treatment of creatine biosynthesis defects" by Schulze and Battini, published in 2007 in the textbook "Creatine and Creatine Disorders in Health and Disease."

Guanidinoacetate Levels in Blood { .10 -1.70 normal range)
6-8-09 --- 27.4
6-22-09 --- 30.4
8-12-09 --- 11.7
9-21-09 --- 5.4
11-5-09 --- 4.5
12-21-09 --- 3.8
4-5-10--- 4.3
6-7-10 --- 4.0

Guanidinoacetate Levels in Urine {4.3 - 192.0}
6-8-09 --- 5896
6-22-09 --- 9604
8-12-09 --- 567
9-21-09 --- 354
12-21-09 --- 232
4-5-10 --- 242
6-7-10 --- 210

Creatine - Levels in Blood {3.0 -114.0 normal range}
6-8-09 --- .6
6-22-09 --- .6
8-12-09 --- 210.9
9-21-09 --- 469.0
11-5-09 --- 885.4
12-21-09 ---461.7
4-5-10 --- 496
6-7-10 --- 605

Creatine - Urine {4.9 - 1319.0 normal range}
6-8-09 --- 14
6-22-09 --- 15.0
8-12-09 --- 10073
9-21-09 --- 2905.9
12-21-09---9360
4-5-10 ---
6-7-10---

Creatinine - Blood { .63 - 73}
6-8-09 --- 1.5
6-22-09 --- 1.4
8-12-09 --- 17.8
9-21-09 --- 21.6
11-5-09 --- 22.9
12-21-09---25
4-5-10 --- 24.1
6-7-10---28.8

Creatinine - Urine { .2 - 10}
6-8-09 --- 0.1
6-22-09 --- 0.04
8-12-09 --- 3.7
9-21-09 --- 1.0
12-21-09---2.7
4-5-10 --- 6.3
6-7-10 --- 1.4

Prealbumin {18 -45 normal range}
9-21-09 --- 24.8
12-21-09 --- 17.1
4-5-10 --- 10.9
6-7-10 --- 13.1

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