Letter from Theodore M. Bayless to Victor A. McKusick
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1971-02-12 (February 12, 1971)
Bayless, Theodore M.
Johns Hopkins University. School of Medicine
McKusick, Victor A.
Original Repository: Alan Mason Chesney Medical Archives. Victor Almon McKusick Collection
Reproduced with permission of Theodore M. Bayless.
Medical Subject Headings (MeSH):
The Bar Harbor Course and "McKusick's Catalog," 1960-1980
February 12, 1971
Re: Fourth annual conference on clinical delineation of birth defects, June, 1971
Dear Dr. McKusick:
I will be pleased to participate in your conference.
You had asked for suggestions as to topics or participants for the area of digestive and absorptive functions of the GI tract
such as alterations in the digestive ability of the small intestine mucosa. You are covering this with the disaccharidase
deficiencies. Some interests in this area include fetal development and changes in lactase levels after birth as well as the
prevalence in adults. There is also some
recently accumulating information on peptidase deficiencies and defects in amino acid absorption. Along the lines of absorptive
defects, the glucose-galactose malabsorption is an excellent example. In terms of defects in mucosal synthesis, a-Beta lipoproteinemia
is a good example. If you wish I could certainly cover all of these topics. Another area would be familial chloridorrhea.
These patients are unable to reabsorb chloride and have a severe diarrhea and electrolyte inbalance. In terms of the pancreas,
there are some children with hereditary pancreatitis and some with absence of the pancreas. I think that this could easily
be covered by your cystic fibrosis people. The area of the development of the stomach is being explored by Dr. Julius Deren
of the University of Pennsylvania. There are no major clinical problems that come to mind, so this area is probably not vital.
It could also be covered very briefly in a discussion of the small bowel development.
Dr. Deren is also interested in the small bowel. There are a number of other people who could easily speak on the small bowel,
but I think that most of this could be included in the talk on disaccharidases.
As I'm writing this, I wonder if celiac disease should not be mentioned because this certainly seems to be an inherited
disorder and the defect is probably present at birth, but does not become clinically apparent until the child is about 8 months
of age when he begins to consume large amounts of wheat, rye and oats. The current going thoughts are that this might be due
to a peptidase deficiency and inadequate digestion of some of the wheat and peptides. This has not been proven
but it does make a nice story. Obviously Tom Hendrix or I could talk about this. Dr. Dowd Kowlessar-Jefferson in Philadelphia
is extremely interested in the peptide but has been unable to come up with a specific peptidase deficiency at this time.
Pardon my rambling. I hope this is of some help to you.