Evening star., 1939-04-04
Of Stars, Men =
And Atoms :
Notebook Of Science Progress
In Field, Laboratory
And Study
By Thomas r. Henry.

By Thomas r. Henry.
BALTIMORE, April 4.-Failure of the
body to make proper use of one Of the
nitrogen acids essential for
growth is responsible for new and rare
brain disease, Drs. Richard j. Block and
George A. Jervis of the New York Psy-
chiatric Institute reported to the Amer
lean Chemical Society meeting here
today.
The malady, which is characterized by
imbecility, was first described in Norway
four years ago and is marked by the
excretion of phenyl-pyruvic acid. 1t is
known as phenylpyruvic oligophrenia and
afflicted with it.
All indications point, the two chemists
said, to the fact that it is an hereditary
disease caused by lack of an engine or
an engine system which enables the body
properly to metanolize phenylalanine, one
of the amino acids necessary for growth
and hence for life itself.
Our recent findings have shown" they
said, that phenylalanine is present to
the extent of 20 to 80 milligrams for 100
centimeters of blood and to 9 milli-
grams per 100 centimeters of spinal
fluid in these patients. Blood and spinal
fluid of normal individuals and of other
imbeciles contain less than one milli-
gram per 100 centimeters. No evidence
of phenylpyruvic acid, either in the blood
or spinal fluid, has been found. Thus it
seems that the presence of phenylpyruvic
acid in the urine, which led to the find
ing and classification of this disease, is
the result of an attempt by the body to
rid itself of the excess phenylalanine
which is circulating in the blood. 1t is
known that phenylpyruvic acid is the
first step in the oxidative breakdown of
phenylalanine. Our experiments so far
have shown that the amount of phenyla-
lanine is increased on high protein diet
or after feeding the amino acid and is
decreased on low protein diet.
The disease in certain respects is
similar to diabetes. If one feeds sugar
or substances which yield sugar in the
body, there is an increase in the amount
of blood sugar and an increase in the
amount of sugar eXcreted in the urine.
Likewise in phenylpyruvic oligophrenia,
if phenylalanine, phenylactic acid,
phenylpyruvic acid. or protein is fed, the
amount of phenylalanine in the blood and
of phenylpyruvic acid in the urine is in
creased. In the case Of diabetes, we know
that the usual cause is lack Of sum-
cient amount of the engine, insulin,
which is necessary for the proper meta
bolism of glucose. In the case of
phenylpyruvic oligophreni it seems prob
able that here also specific engine or
a hormone, required for the catabolism
of phenylalanine, is lacking. The de-
ficiency does not appear to be the result
of a disease or the gradual atrophy of
specific organ as in diabetes mellitus, but
this biochemical anomaly may be traced
to a hereditary lack of the particular
engine.
THE relationship between the high
amount of phenylalanine in the blood
and the defect in brain development Is
not settled as yet. 1t may be that the
large amounts of phenylalanine circu-
lating in the blood and spinal fluid act
upon the central nervous system in q
poisonous fashion and SO inhibit brain
development or destroy tissue which is
there. A second hypothesis is that
the brain requires for its normal func-
ton and development phenylalanine OF
some of it's catabolic products and being
unable to obtain these in sufficient guam
titles, remains at very low level OF
development. Our present studies indi-
cate that there is no apparent difference
in the amount of phenylalanine in the
blood proteins obtained from normal
individuals and from phenylpyruvic oig-
ophrenic idiots. AS yet no opportunity
has been given us to determine the
amount of phenylalanine present in the
brain of one of these idiots.
ut is hoped that careful study of
phenylpyruvic oligophrenia will permit
us to arrest the spread of this type of
mental deficiency and possibly prevent
its onset in certain instances. For
example, in the metabolic anomaly,
cystinuria, the progressive destruction
of the kidneys may be arrested by MAIN
tanning the patient on a diet relatively
deficient in the amino acids, methionine
and cysteine. Attempts will be made to
formulate diet containing very small
amount of phenylalanine. On such
low phenylalanine diet, it is hoped that
the brains of patients with this heredi-
tary defect may develop normally.
Other approaches are being tried, such
as the publication of the engine system
so that, again in analogy with diabetes,
the needed engine or co-enzyme may
be supplied. Studies are also under way
in order to ascertain which individuals
of the family may be carriers of the
disease so that preventative measures
may be instituted before the mental de-
fects become generally apparent"
AnnroVeS Idea NJ Hama