Family Stories; Fillipo Ammannati

Methlymalonic Acidemia , mut 0, Age 5

Hello, on March 5,1999, Filippo, our second son was born. We have a daughter, Matilde, 10 years old, fortunately healthy. Filippo, at his birth obtained the score of 10 on the Apgar scale. He was beautiful! I could breastfeed him immediately after his birth.

At home, I had to wake up Filippo for the breastfeeding; he wasn't hungry. On the tenth day after the birth, the doctor weighed our baby and observed a sensible physiological loss. He was hospitalized in Pisa in order to feed him artificially. The doctors didn't understand what Filippo could have; the child recovered and we could bring him home after one week without a very exact diagnosis.

Filippo grew up normally until he was one year old, both physically and mentally. When he was 15 months old, he had a bronchopneumonia, he quit nourishing and he was hospitalized again and the doctors found that he had flabby muscles. The doctors were not able to find out the causes of his state of health and they decided to send the metabolic analyses to the Meyer Hospital in Florence , to the neurometabolic division directed by prof. Zammarchi. When Filippo was 17 months old he was found to have MMA MUT 0. Since then, he has improved a lot, he began to walk when he was 18 months old, he is attending the maternal school and twice a week he goes to a language rehabilitation center; this will be a solvable problem. Now Filippo eats normally, he does not need the stomach tube, his weight and his highness fall under the normal limits, he is a very cheerful and intelligent kid and he seems completely healthy. The sole problem is his glicyn blood level, it hardly goes under 800. He needs to eat foods without proteins, so his caloric intake is as follows:

Total caloric intake about 1500

Proteins g 14,5 or 4%

Fats g 53 or 31%

Carbohydrates g 267 or 65%

His pharmacological therapy is as follows:

Carnitin g 2 per day

B12 vitamin: one vial per os

12 drops proto vitamin tablet of multicentrum for adults

Flagyl 10 days per month

May God bless your sons and your family with the hope that our sons may recover with the so long waited genetic therapy

A warm hug from Italy