Acid Maltase Deficiency: A Scientific Reaction Paper from the

movie “Extraordinary Measures”

Pompe’s disease, also known as glycogen storage syndrome type II (GSTII) or

"acid maltase deficiency", is caused by the lack of acid alpha-glucosidase (GAA), a

lysosomal enzyme that cleaves the α.-1,4-1,6-glycosidic bonds of glycogen to

glucose. This happens when your body cannot produce a protein that breaks down a

complex sugar called glycogen. Deficiency of the enzyme leads to accumulation of

glycogen in lysosomes in a large number of tissues, but clinical symptoms are

primarily caused by involvement of the heart and skeletal muscles. The ailment is

portrayed by a wide scope of indications going from serious newborn child-onset

muscle weakness, hypotonia and hypertrophic cardiomyopathy to moderately slow

dynamic skeletal muscle myopathy, (Hirschhorn and Reuser, 2001) as cited by (Lim,

Li and Raben, 2014). Pompe’s disease is an uncommon issue with an expected

recurrence of 1:40,000. According to American National Medical Library (2020), this

condition is inherited in an autosomal recessive form, meaning that two copies of the

gene in each cell contain mutations. Men and women are equally vulnerable. Each

parent of a person with autosomal recession carries a copy of the mutated gene, but

they usually do not show signs and symptoms of the condition and also have a 1 or

25% chance of each pregnancy, a 50% chance of having a carrier baby, and a 25%

chance of having an unaffected child.

In addition, van der Ploeg and Reiser (2008) examined that Pompe’s disease is

similarly treated as a muscular dystrophy, although the glycogen's contractile capacity

is greater than mobility and respiratory problems. Pompe’s disease is milder than the

early-stage baby structure and, in general, the heart is unaffected. This is based on the
fact that there is a half deficit of GAA. Symptoms may not begin until childhood,

adolescence, or adulthood. Around two-thirds of people with Pompe’s disease have a

delayed initial buildup. Additionally, most people with late-onset Pompe’s disease

suffer from progressive muscle weakness, especially in the legs and trunk, including

muscles that control breathing. As the disorder progresses, respiratory problems can

trigger respiratory problems.

Moreover, the life expectancy of Pompe affected depends on a few factors, for

example, the type of Pompe’s disease for a patient, the severity of symptoms and how

well they are monitored. Classic infant-onset Pompe’s disease is the most serious type

of the disease in wherein manifestations show up inside a couple of months after

birth. Without treatment, affected children give in to coronary disease within their

first year. The non-classic infantile-onset type of the ailment is comparatively less

serious. It shows up inside the main year of life and has a more slow movement rate,

however patients frequently likewise have coronary illness and breathing issues,

which can be lethal if not went to in time. This is the situation of Megan in the movie;

her diagnosis was in the second year of her life, before Patrick was given birth.

Delayed onset Pompe’s disease can occur at any age. The acid alpha-glucosidase

enzyme is higher in patients with this type of disease than in patients with severe

forms of the disease. Patients with delayed onset also show similar symptoms, for

example, muscle weakness and breathing issues. They can make due up to age 30 if

the illness shows up in youth and up to age 50 on the off chance that it develops in

adulthood. For the most part, the later the period of on-set of the illness, the slower its

movement and the more extended its life expectancy, (Subramanian, 2009).
 Furthermore, in the movie, myozyme was presented as the trade name of the

enzyme designed to replace the missing acid maltase that causes the occurrence of the

Pompe’s disease. As stated by the European Medicines Agency, (2008), myozyme

(alglucosidase alfa) is a recombinant form of human acid α-glucosidase and is

produced by recombinant DNA technology using Chinese hamster ovarian cell

culture. Myozyme is indicated for long-term enzyme replacement therapy (ERT) in

patients diagnosed with Pompe’s disease. Marketing approval for Myozyme was

granted on March 29, 2006. Also, International Pompe Association (2006) asserted

that myozyme is an enzyme replacement treatment that replaces the insufficient

enzyme. With ERT, a patient with Pompe’s disease gets normal measures of the

insufficient GAA enzyme utilizing a genetically engineered enzyme. The enzyme

therapy is conveyed intravenously, through the bloodstream. The enzyme goes to the

muscles and breaks the glycogen that causes harm when it develops in the cells.

Enzyme substitution treatment is a deep-rooted treatment that is given at standard

interims, for instance, two times every month. The all-out portion depends on the

patient's weight.

Also, in the movie, according to Dr. Stonehill, sugar high or rush happens

when the enzyme is breaking down sugar in the muscles. It means that the glucose

level of Megan and Patrick went high after the overnight infusion of the replacement

enzyme. But in reality, sugar hyperactivity is only a myth. According to Roldos

(2019), the “sugar rush” concept was eliminated in the scientific community when a

comprehensive 1995 meta-analysis demonstrated no effect of sugar on children’s

behavior or cognitive performance. Nevertheless, the myth survives for almost 25

years after that meta-analysis, researchers continue to examine the impact of sugar on

mood. More specifically, some studies investigating the association between mood
and simple sugars have suggested changes in cognitive performance and emotional

well-being. The same results by Mantanzis, Schlhecken, Sanram-Leia, Mellor (2019)

suggest that carbohydrates may decrease alertness of up to one hour after ingestion

and increase fatigue within 30 minutes of ingestion. However, when we look at the

confidence intervals for the results, a pretty strong pattern emerges: each

measurement has little or no effect.

However, a downhill was depicted in the movie. That is the time when the

effect of the enzyme replacement therapy occurs over a very short period of time. Yet,

an enzyme replacement therapy is a long-term process in patients diagnosed with

Pompe’s disease. According to a journal published by Pompe Disease News (2018),

once started, patients need to be on the therapy for their entire lives in order to prevent

the glycogen from building up again. The treatment usually is not stopped or

interrupted. Though improvements are really observable, but its occurrence is not that

fast as it was shown in the movie. And the sugar high that Dr. Stonehill was talking

about is also an observable misconception as it what discussed by Roldos (2019) that

it was only a myth.

As this is a genetic disease, it cannot currently be prevented. Yet, one of the

best things you can do is to undergo series tests determining if you’re a carrier on the

said acid maltase deficiency. Also, in choosing partner, make sure to trace the family

background specifically the complications their family have. Or better be the both of

you can undergo genetic counseling. Taglia, et al. (2011) revealed in their study that

genetic counseling is the process of providing information to individuals and families

about the nature, inheritance, and impacts of genetic disorders that help them make

medical and personal decisions. Genetic clinics, staffed by geneticists, provide

information on heredity and genetic risks to individuals and families and other family
members, as well as information on natural history and available consumer-related

resources. However, if I will have a family member to be diagnosed with Pompe’s

disease, the first thing I’ll do is to accept the reality. This kind of illness doesn’t have

any cure yet but there’s a therapy on that can help sustain the missing enzyme that

causes the disease. By that, if I can provide, then I will let them have the ERT to

alleviate their suffering by a bit. That’s for now the best I can do for them.

In general, the movie “Extraordinary Measures” did great in presenting the

rare Pompe’s disease. The film also reveals to the unfamiliar how science deals with

strict protocols, financial requirements, competing interests, and the circumstances

and the game of personality involved in medical research. But the film reveals a

number of trial and error schemes, and it is the same with Stonehill as an isolated,

single-minded, theorist.
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