Since the newborn screening has become much more sensitive, the appearance of galactosemia has increased.  I assume that milder cases are appearing.  That has been my experience anyway.  The patients that I have worked with have had a wide range of ability to tolerate breastmilk.  Some have had the classic form and have not been able to breast down any breastmilk or dairy.  The babies that have Duarte galactosemia have been able to tolerate variable amounts of breastmilk.  Here is a short video that has a good description of the genetics of galactosemia.  (I will have to ask Dr Duarte if duarte is the same as borderline ;-)     Rachel Wahl RN IBCLC  

http://www.peds.ufl.edu/divisions/genetics/programs/newborn_screening/camtasia_final_8-1_galact/camtasia_final_8-1_galact.html  

  



Acta Paediatr Scand. 1980 Nov;69(6):735-9.
Borderline galactosemia.
Pettersson R, Dahlqvist A, Hattevig G, Kjellman  
A family with combined heterozygosity for "classical" galactosemia (deficiency of uridyl-transferase) and for galactokinase deficiency is reported. The proband, who had this genetic combination was detected as newborn in the ordinary screening for galactosemia. A lactose tolerance test at the age of three months proved normal and he has no symptoms or signs on ordinary diet. The mother of the proband was not only heterozygote for "classical" galactosemia and galactokinase deficiency but also for the Durarte variant. She had a substantial urine excretion of galactose and high serum galactose after an oral lactose load. She had no clinical symptoms or signs. Patients with combined heterozygosity for galactosemia may develop cataracts and should be followed by clinical examinations.


      
 

 

 
> Date: Mon, 5 Jul 2010 16:29:31 -0400
> From: Jeanette McCulloch <[log in to unmask]>
> Subject: "borderline" galactosemia
> 
> All:
> 
> I am writing with permission regarding a mother whose baby has been
> diagnosed with partial galactosemia. The baby's initial screening
> suggested galactosemia, and further screening suggested "borderline"
> galactosemia. She is seeing a specialist shortly. In the meantime,
> she has decided to breastfeed once a day and is pumping to protect her
> milk supply until she decides how to progress.
> 
> Diane Wiessinger (thank you!) directed me to a great article on the
> LLLI website (http://www.llli.org/NB/NBJulAug97p123.html) but I have
> found remarkably little else (nothing in Lawrence or Riordan, anyway)
> on borderline galactosemia.
> 
> Has anyone else ever seen this? Have resources to recommend?
> 
> Many thanks in advance!
> 
> Jeanette McCulloch
> LLL Ithaca, NY
> director, Birthways, Chicago
> 
 		 	   		  
             ***********************************************

Archives: http://community.lsoft.com/archives/LACTNET.html
To reach list owners: [log in to unmask]
Mail all list management commands to: [log in to unmask]
COMMANDS:
1. To temporarily stop your subscription write in the body of an email: set lactnet nomail
2. To start it again: set lactnet mail
3. To unsubscribe: unsubscribe lactnet
4. To get a comprehensive list of rules and directions: get lactnet welcome