“Extraordinary Measures” – A Movie about Pompe’s Disease


Extraordinary Measures is a 2010 film about parents trying to save their children affected by Pompe Disease, A Glycogen Storage Disease produced by mutations on a gen that makes the enzyme acid alpha Glycosidase (GAA), a lysosomal hydrolase.

 Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and muscles.

The movie is based on the true story of John and Aileen Crowley, whose two youngest children were affected with Pompe Disease.

The real John Crowley

As you know Glycogen storage diseases are genetic enzyme deficiencies that result in excessive glycogen accumulation within cells. Additional symptoms depend on the particular enzyme that is deficient.

There are different forms of Glycogen Storage Diseases (aka Glycogenoses), including the Type Ia GSD or Von Gierke’s disease, caused by hepatic deficiency of Glucose 6 Phosphatase, the Type IV or Andersen’s Disease, caused by deficit of branching enzyme in various organs, including the liver, and the GSD Type V or McArdle’s Disease (caused by muscle deficiency of Glycogen Phosphorylase), among others.

GSD Type II or Pompe’s Disease was described by Pompe in 1932, when he studied a girl who suffered from a cardiopathy caused by glycogen accumulation.

The National Institute of Neurological Disorders and Stroke (NINDS), an Institute of the National Institutes of Health System, describe the disease in these terms:


“Early onset (or infantile Pompe disease is the result of complete or near complete deficiency of GAA.  Symptoms begin in the first months of life, with feeding problems, poor weight gain, muscle weakness, floppiness, and head lag. Respiratory difficulties are often complicated by lung infections.  The heart is grossly enlarged. More than half of all infants with Pompe disease also have enlarged tongues.  Most babies with Pompe disease die from cardiac or respiratory complications before their first birthday. 


Late onset (or juvenile/adult) Pompe disease is the result of a partial deficiency of GAA.  The onset can be as early as the first decade of childhood or as late as the sixth decade of adulthood.  The primary symptom is muscle weakness progressing to respiratory weakness and death from respiratory failure after a course lasting several years.  The heart may be involved but it will not be grossly enlarged.  A diagnosis of Pompe disease can be confirmed by screening for the common genetic mutations or measuring the level of GAA enzyme activity in a blood sample — a test that has 100 percent accuracy.  Once Pompe disease is diagnosed, testing of all family members and consultation with a professional geneticist is recommended.  Carriers are most reliably identified via genetic mutation analysis.

A diagnosis of Pompe disease can be confirmed by screening for the common genetic mutations or measuring the level of GAA enzyme activity in a blood sample — a test that has 100 percent accuracy.  Once Pompe disease is diagnosed, testing of all family members and consultation with a professional geneticist is recommended.  Carriers are most reliably identified via genetic mutation analysis.”

“…Individuals with Pompe disease are best treated by a team of specialists (such as cardiologist, neurologist, and respiratory therapist) knowledgeable about the disease, who can offer supportive and symptomatic care.  The discovery of the GAA gene has led to rapid progress in understanding the biological mechanisms and properties of the GAA enzyme.  As a result, an enzyme replacement therapy has been developed that has shown, in clinical trials with infantile-onset patients, to decrease heart size, maintain normal heart function, improve muscle function, tone, and strength, and reduce glycogen accumulation.  A drug called alglucosidase alfa (Myozyme©), has received FDA approval for the treatment of infants and children with Pompe disease.  Another alglucosidase alfa drug, Lumizyme©, has been approved for late-onset (non-infantile) Pompe disease. ..”

“…Without enzyme replacement therapy, the hearts of babies with infantile onset Pompe disease progressively thicken and enlarge.  These babies die before the age of one year from either cardiorespiratory failure or respiratory infection.  For individuals with late onset Pompe disease, the prognosis is dependent upon the age of onset.  In general, the later the age of onset, the slower the progression of the disease.  Ultimately, the prognosis is dependent upon the extent of respiratory muscle involvement. …”

 It is interesting that even when the Acid Alpha-glycosidase is only involved in the degradation of about 3 % of the Glycogen, its deficit provokes such important damages. Since this enzyme is not related to the main pathways of degradation of glycogen, its deficit does not produce hypoglycemia or a direct lack of metabolic energy. Cellular damage is caused mainly by accumulation of glycogen in the cytoplasm and the lysosomes.

As describe above, nowadays the treatment is based on the use of a recombinant human acid Glycosidase as a replacement of the normal enzyme.  “Extraordinary Measures” describes, in fact, the events that triggered the development of the enzyme for the treatment of this disease.

My favorite quotes of this movie:

John Crowley (Looking at the college-aged kids hired to work under Dr. Stonehill):

-These guys make me feel old.
Dr. Robert Stonehill:

– Scientists get all sensible & careful when they get old. Young ones like risk, not afraid of new ideas… and you can pay ’em less.


John Crowley (talking with Dr. Stonehill after an argument):

–  “Fine, spend the rest of your life dreaming up great ideas that don’t get funded. Draw your diagrams on the wall that cure diseases in theory but never help a single human being in reality.”


John Crowley (arguing with a corporate executive about drug research):

–  “This is not about a return on an investment, it’s about kids. Kids with names, dreams, families that love them.”


Recommended articles and links:

NINDS Pompe Disease Information Page

Ibrahim, J.; McGovern, M. M.

Glycogen Storage Disease Type II

Some pictures of the Crowley family




After Vincent genetic test:

Vincent: What about the interview?

Dr. Lamar: That was it.


Basically GATTACA  is a movie about a future where your DNA becomes your Curriculum Vitae.

What does “GATTACA” means?

In the movie, it is the name of the facility where the action occurs, and apparently, it was the better way that was found by the creators of the movie for arranging the four “bases”  in the DNA (Adenine, Guanine, Cytosine and Thymine) in such a way that it sounds like a name.

The title sequences highlight these letters that represent the nitrogen bases in the DNA:



GATTACA main message is:

“There is no gen for the human spirit”



For additional information about this movie, please visit the Moviecular Biology page.

About Dragon Metabolism (again).

Of course, the post “New lights on Dragon Metabolism”, posted on April 1st. was a joke for April Fools day. I invented

the whole Dragogenin issue!

Some clues that could have allowed the readers to detect that it was a joke:       

          The date of the release of the information, April 1st., is repeated three times along the post.


          The News Agency:  It is not Reuters, or UPI, or AP or AFP, but an imaginary AMP (Adenosin MonoPhosphate agency!).


          The place where the information was released: Nogare, an imaginary place, whose name is the name of the famous dragon movies “Eragon” written backwards.


          Komodo University: Of course, an imaginary University.


          The reference to imaginary, mythological creatures as ancient dragons that were living in Europe in the V -VII centuries.


          And of course, the note at the end of the post: “This post was released on April, 1st, 2009 (Happy A.F.)”, meaning Happy  April Fools!


Conclusions: Do not believe everything you read, mainly if it is on April Fools!



There is Biochemistry also in “Twilight”!

“And Edward was staring at me curiously, that same, familiar edge of frustration even more distinct now in his black eyes.

I stared back, surprised, expecting him to look quickly away. But instead he continued to gaze with probing intensity into my eyes. There was no question of me looking away. My hands started to shake.

“Mr. Cullen?” the teacher called, seeking the answer to a question that I hadn’t heard.

The Krebs Cycle,” Edward answered, seeming reluctant as he turned to look at Mr. Banner.”



Related posts:


Porphyrias at the movies


Michael Crichton, R.I.P.


John Michael Crichton, M.D. (October 23, 1942 – November 4, 2008) was an American author, film producer, film director, and television producer best known for his science fiction and techno-thriller novels, films, and television programs. His books have sold over 150 million copies worldwide.

Medicine, Biochemistry and Molecular Biology were present in an important part of his novels. He graduated from Harvard Medical School in 1969, and did post-doctoral fellowship study at the Jonas Salk Institute for Biological Studies in La Jolla, California, from 1969 to 1970. In 1988, he was Visiting Writer at the Massachusetts Institute of Technology

Among his novels and works that include Medicine, Biochemistry and molecular topics are included “A case of Need” (Abortion), “The Andromeda Strain” (Disseminated Intravascular coagulation, blood pH, mutations), “Next”, (Genetic Research), “Jurassic Park” and its sequel “The Lost World” (Genetic Research), “The Terminal man” (Psychiatry, Epilepsy), and of course, the “ER” television drama (Crichton was also the creator and executive producer).



Michael Crichton also wrote a non-fictional book relating his hospital experiences at Massachussets General Hospital in Boston. In this book, called “Five patients”, Crichton follows the history of five patients, and include issues related to drug prices, and healthcare costs and polices.


The news about his death in TV:


In December 1994, he achieved the unique distinction of having the #1 movie (Jurassic Park), the #1 TV show (ER), and the #1 book (Disclosure, atop the paperback list).


American author Michael Crichton dies at age 66

Michael Crichton


Related page: Moviecular Biology



Breakable: Mr. Glass and Osteogenesis Imperfecta.



This movie is called “Unbreakable”, in reference to the character played by Bruce Willis, but from the biochemical point of view, we are more interested in the character of Elijah, played by Samuel L. Jackson: the “Breakable” character, or “Mr. Glass”.


Elijah Price: “I have something called Osteogenesis Imperfecta. It’s a genetic disorder. I don’t make a particular protein very well and it makes my bones very low in density… very easy to break.”



More information, Soon, in a webpage near you!

(Unbreakable: Osteogenesis Imperfecta Case Presentation)





About “A Beautiful Mind”


A few days ago I posted a question using some scenes of the movie “A Beautiful Mind” (“A question with a video clip“) 


The answer for that question can be seen in the updated Biochemistry at the Movies Page, where the use of Insulin Shock Therapy, or Insulin Coma Therapy (ICT) that appears in this movie, is described.  John Nash, the Nobel Prize whose battle with schizophrenia was the base of the movie, tells his experience with ICT, but also Leonard Franks, an activist against Insulin Shock Therapy and other psychiatric procedures presents his opinions as a “psychiatric survivor”, about these therapies, that has been abandoned already by the mainstream psychiatry.  Some links to articles with relevant information about ICT have been included in the post


I invite you to visit “A Beautiful Mind: Hypoglycemia and Insulin Coma Therapy” at the Biochemistry at the Movies Page.