Methylmalonic Acidemia

Question: Are there any genetic disorders or deficiencies that closely mimic methylmalonic acidemia? Are there any genetic disorders or deficiencies that closely mimic methylmalonic acidemia (MMA)? Not including other organic acidemia ohh yea, and B12 deficiency.

Answer: Look up "hypotonic infant" . B12 deficiency produces increased MMA in adults, but MM acidemia is a childhood disorder. Hypotonia, poor suck, "failure to thrive", etc. Werdnig-Hoffman would resemble, so would several others.

Question: Anyone know about infant methylmalonic acidemia? I need some help getting information about Methylmalonic Acidemia, in particular if you have had or know of someone with a baby that has it and how they were treated, their outcome, how they are today or if they died? Any listserves that can offer advice, any doctors or metabolic clinics that were helpful? Where I live it difficult and time consuming to persue treatment options because the specialists and labs are in another state. My husband and I are going to travel to another state for care but need some help locating a doctor that knows a lot about it and a metabolic clinic that is preferably in the top 5. Thanks for any help.

Answer: I don't know anyone with this disorder, but I did some research and came up with some links for you. http://www.ncbi.nlm.nih.gov/bookshelf/br… http://ghr.nlm.nih.gov/condition=methylm… http://www.ncbi.nlm.nih.gov/entrez/dispo… For support groups specifically, try the following: http://www.mmaresearch.com/ http://www.oaanews.org/ http://ghr.nlm.nih.gov/condition=methylm… http://rarediseases.info.nih.gov/GARD/Di… Best of luck to you and your family.