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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Can Ammonia Deficiency Caused Damage Be Reversed Through Stem Cell Treatment?

my daughter is diagnosed with asl deficiency. She is mentally retarded as a result of the ammonia that caused damage when she was an infant. I looked for answers for 14 yrs and just found out what happened. Is there hope through stem cell transplants?
Thu, 22 Sep 2016
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Pediatrician 's  Response
Argininosuccinate Lyase Deficiency is an inborn error of metabolism that affects the urea cycle and induces hyperammonemia in infants and it's catastrophic to development of the nervous system , and most patients even those who are early diagnosed suffer from moderate to severe mental retardation.
the good news is Donor cell engraftment with expression of enzyme activity is the goal of liver cell transplantation for inborn errors of liver metabolism with a view to achieving sustained metabolic control.
there are few studies made on this subject and one of these patient who receive this treatment was a 3 years old who was shifted from having a sever illness to moderate or late onset disease which is milder , and was able to go to school later on
so there is always hope.
I recommend referring to one of these centers to assess her case and make a decision about her
I hope this helps
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Can Ammonia Deficiency Caused Damage Be Reversed Through Stem Cell Treatment?

Argininosuccinate Lyase Deficiency is an inborn error of metabolism that affects the urea cycle and induces hyperammonemia in infants and it s catastrophic to development of the nervous system , and most patients even those who are early diagnosed suffer from moderate to severe mental retardation. the good news is Donor cell engraftment with expression of enzyme activity is the goal of liver cell transplantation for inborn errors of liver metabolism with a view to achieving sustained metabolic control. there are few studies made on this subject and one of these patient who receive this treatment was a 3 years old who was shifted from having a sever illness to moderate or late onset disease which is milder , and was able to go to school later on so there is always hope. I recommend referring to one of these centers to assess her case and make a decision about her I hope this helps