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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