The Discovery of Phenylketonuria: The Story of a Young Couple, Two Retarded Children,
and a Scientist (Reading Report 4)
KyoungMin Park
BMB 484
4/20/19
The article is mainly focusing on the Phenylketonuria (PKU), the unknown disease back in time
that a perfect seems to develop normally for several months, then the growth slows and stop at
certain moment.
The article begins with introduction of a child who suffered PKU with Pearl Buck who was
mother of that child and a person who wrote the book called The Child Who Never Grew.
Through out the book, Pearl Buck stated her opinion about retarded intelligence of child who
came down with PKU, but the article refuted that the book wasn’t that helpful to diagnose PKU.
However, when one of the authors of this article invited her to sniff phenylacetate crystal, the
odor of stale urine samples from PKU patients, Pearl Buck immediately reminded the same odor
from her child.
Next, the article introduces Asbjorn Folling, the Norwegian doctor who discovered mental
retardation from two young children. The PKU was officially discovered in 1934 by Folling, and
one of the authors of this article met with Folling since the author was chasing for the curation of
mental retardation. Through the interview, he realized that Folling could discovered PKU by
Egeland family. Egeland family was composed of two educated and intelligent parents, and two
retarded children. He proved, by classical organic chemistry analysis of benzaldehyde reaction,
that children excreted phenylpyruvic acid in their urine. He realized that urinary phenylpyruvic
acid is the substance that can determine the substance that responsible for the odor of PKU. He
identified the PKU as “error of metabolism” since children who suffer with PKU can’t utilize
phenylalanine. With Metabolic analysis, he also discovered that Hyperphe is the crucial factor
that trigger PKU. As the tragedy of the Egeland family, the younger child was dead at 6 years
old, the older child was dead at 51 years old, and Harry Egeland was dead at only 46 years old.
However, Mrs. Egeland received enormous attention and recognition for taking a significant role
for the discovery of PKU.
Through the enormous elaboration from Egeland family and Asbjorn Folling, PKU got huge
attention from the world and the treatment of PKU was prevailed in the world right now. The
authors of this article expressed huge respect to Folling. One of the authors of this article ferried
over to Norway to meet Folling, while claiming Folling as “hero.” The author said, “Preventing
mental retardation was, to me, one of the greatest challenges of medicine. At that time, I was
very involved in the early detection and treatment of infants with PKU. I wanted to know more
about Dr. Folling and how he discovered this disease” (Centerwall 3).
Overall, I respect Dr. Folling and Mrs. Egeland for elaborating discovery of PKU. Dr. Folling’s
scientific approach to PKU and Mrs. Egeland’s unsurpassable love to her child resulted the
discovery and treatment of PKU in this generation. Because of their effort, now people know
how to deal with the unknown disease back in time and I believe Dr. Folling deserves to achieve
admiration from various scientists in this generation.