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Discussions

MMA skin biopsy

malachismom
  • By malachismom · Posted September 11, 2009
  • In Pre-natal and newborn screening and diagnosis · 1 reply
  • My son was flagged at his newborn screening for high MMA levels. He also has low B12 which corrected after starting injections, so it appears he may have B12 responsive MMA. We just did a skin biopsy ...

measure the enzyme (glutamine synthetase) in the blood of your children

ammarajool
  • By ammarajool · Posted August 12, 2009
  • In Symptoms and treatment · 0 replies
  • Hallow My son is the only one alive patient who is diagnosed with (glutamine synthetase deficiency) . but he shared, with the propionic acidemia and methylmalonic academia , the biochemical abnormalities ...

newborn just diagnosed with mut 0

gus2009
  • By gus2009 · Posted June 20, 2009
  • In Raising a child with an organic acid disorder · 3 replies
  • Hello, I am new to this. My 3 month old daughter was diagnosed with MMA a 5 days old and we finaly recieved the results of her skin biopsy and she is mut 0. I am having a hard time finding encouraging ...

blind from not processing it correctly in the brain?

keerasmom
  • By keerasmom · Posted March 20, 2009
  • In Raising a child with an organic acid disorder · 2 replies
  • Keera hasn't ever stopped moving her eyes or acted like she could see since she was born, they used to go side to side quickly and then plung deeply down to where you could just barely see any of her ...

Bone Marrow Transplant for Organic Acidemia?

Kristinna
  • By Kristinna · Posted February 3, 2009
  • In News and research · 3 replies
  • Has anyone had any experiece with this? My infant has Beta-KetoThiolase Disorder and I asked her Doc about this and he said it may be an option. I am looking to see if anyone out there has ever done this ...

Oral Fixation

boulder50
  • By boulder50 · Posted December 17, 2008
  • In Raising a child with an organic acid disorder · 1 reply
  • Is the oral fixation my grandson has: 1. always having something in the mouth 2. tasting the floor,walls, toys, everything in sight more with him because of the acidemia or is it just the normal growing ...

Cambrooke Foods - Product Recall Notice!

oaanews
  • By oaanews · Posted December 15, 2008
  • In Nutrition and recipes · 0 replies
  • Product Recall Information URGENT: FOOD RECALL NOTICE Dear Valued Cambrooke Customer, Cambrooke Foods® is announcing a voluntary recall on its Imitation Cream Cheese and a market withdrawal of its Peanot ...

New Parent Forum to discuss NBS experience

oaanews
  • By oaanews · Posted December 15, 2008
  • In Pre-natal and newborn screening and diagnosis · 0 replies
  • http://nnsgrc.forumotion.net/parent-to-p arent-f1/ The above link is a new Parent Forum for parents to discuss their NBS experience with other parents and some healthcare professionals. I know some of ...

Proteomics- and Metabolomics-Based Neonatal Diagnostics in Assessing and Ma

oaanews
  • By oaanews · Posted November 30, 2008
  • In Pre-natal and newborn screening and diagnosis · 0 replies
  • Saw this new journal article - and thought others might find it interesting.... Proteomics- and Metabolomics-Based Neonatal Diagnostics in Assessing and Managing the Critically Ill Neonate Alan R. Spitzer ...

IVA with possible biotin/biotinidase deficiency

Jcarter31
  • By Jcarter31 · Posted November 15, 2008
  • In Symptoms and treatment · 5 replies
  • My 5 year od son was just diagnosed with IVA and also has some sort of biotin/biotinidase disorder. Anyone else have a child with IVA and biotin problems ...

Welcome to our new Inspire Group!

oaanews
  • By oaanews · Posted November 5, 2008
  • In Nutrition and recipes · 1 reply
  • Let's start a discussion about what our kids eat - especially with the holidays coming up. Any receipes or special treats to share for the holidays ...

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