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Subject:
From:
"mumma2wldthings @mac.com" <[log in to unmask]>
Reply To:
Lactation Information and Discussion <[log in to unmask]>
Date:
Tue, 3 Jan 2012 12:31:00 -0500
Content-Type:
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hi christine,
this is a potential diagnosis for my son's health and growth issues -  
we are currently seeing a biochemical geneticist and undergoing  
testing for him for GA II (also known as MADD).
  if this baby is 1 month old, it is very unlikely s/he has type I as  
type I is nearly always fatal shortly after birth. if the baby did  
have it, most likely it would be type II.
  this metabolic disorder is an inability of the body to fully process  
and utilize fats and proteins at a cellular level. babies suffering  
from it tend to burn through their carbs and sugars extra fast and  
then the fats and proteins they can't use build up and cause acidosis  
in their bodies. besides growth and possibly developmental issues, you  
would expect to see signs similar to a "sugar crash" or metabolic  
crisis in a baby w/ this disease. floppy, limp, pale, shaky, sweating,  
no or low muscle tone, vomiting, seizures, baby could slip into a coma  
and death can occur if the diet is not modified and baby put on  
supplements like acylcarnitine, riboflavin and other supplements these  
children don't make on their own. i have joined a wonderful support  
group online (on FB) for this inborn error of metabolism and many  
mothers there breastfed successfully w/ proper supplemetation w/ the  
things i mentioned above as well as some others - and i am still  
breastfeeding my 4 yo, who we suspect has it. here is the group and  
some other great links for you and the mother that i hope will help  
ease her mind until further diagnosis can be made!
Glutaric acidemia type II - Genetics Home Reference
OMIM Entry - #231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD
GA 2 Parent Guide
An Introduction to Metabolic Disorder | ENCOGNITIVE.COM
NEWBORN SCREENING
Glutaric Acidemia II (GA2)
Glutaric Acidemia Type II Support (89)
Online Support for Fatty Oxidation Disorders, Metabolic Disorders,  
Newborn Screening and Carnitine Deficiency
~jacqui gruttadauria, bsw
(near detroit, michigan, USA - where i am getting he kids off to  
school after a 17 day holiday break!)

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