What is phenylketonuria?

4 May 2021

It is a hereditary condition in which there is an excessive accumulation of phenylalanine in the body, as a result of an abnormal gene responsible for producing an enzyme that helps metabolize this amino acid present in foods with a high percentage of protein.

By not having the enzyme, phenylalanine accumulates when consuming foods such as meat, eggs, milk, fish, or artificial sweeteners such as aspartame, causing serious health disorders in people of any age, such as:

Phenylketonuric mothers can suffer spontaneous abortions and their babies can be born with birth defects.
Permanent neurological damage.
Intellectual disabilities.
Seizures and tremors.
Behavioral, emotional, and social problems.

Signs and symptoms Phenylketonuria

Babies do not usually have symptoms at birth but until a few months later. Its severity will depend on the type of phenylketonuria:

Classic: the enzymes do not fulfill their function, so phenylalanine concentration levels are extreme, causing serious neurological damage.
Mild: here the enzyme is decreased, but it continues to perform its function partially, which minimizes the risk of possible complications.

The most frequent symptoms are:

Slow development.
Behavioral, emotional, and social changes.
Psychiatric abnormalities.
Musty smell in the mouth, skin, and urine.
Seizures.
Eczema.
Clear eyes and skin by preventing the transformation of phenylalanine into melanin.
Microencephaly.
Hyperactivity.
Intellectual disabilities.

If pregnant phenylketonuric women do not follow an adequate diet, they may have a spontaneous abortion or if they continue with the pregnancy, their children may experience:

Low birth weight.
Slow development.
Changes in the face.
Microencephaly.
Heart conditions.
Intellectual disability.

Diagnosis and treatment Phenylketonuria

To find out if you or your child suffer from phenylketonuria, blood and urine tests are required, as well as genetic tests to identify the genetic mutation that causes it. The treatment plan consists of:

Low protein diet.
Take a special food supplement for phenylketonurics.
Neutral amino acid therapy.
Specific medications.

In our Pediatric Center, a team of highly trained specialists awaits you 24 hours a day, 365 days a year, ensuring optimal care and results by providing care based on clinical practice guidelines and international protocols.

Related centers and departments Phenylketonuria

Pediatrics Center
Internal medicine
Radiology and Molecular Imaging
Clinical Laboratory

Fuentes:

cigna.com
mayoclinic.org.
aboutkidshealth.ca
medilineplus.gov
healthychildren.org
medigraphic.com
Pardo-Campos M, Enacan R, Valle G, et al. Fenilcetonuria: perfil de atención y ejecutivo en pacientes con detección temprana y tratamiento adecuado. Acta Pediatr Mex. 2021;42(5):233-240.
Moreno AJA, Contreras RJ, Pérez RJ, et al. Diagnóstico de fenilcetonuria clásica mediante dos métodos analíticos confirmatorios, a propósito de un caso. Rev Cub Gen. 2012;6(2):54-57.
Soto-Larracoechea MM. Importancia de la rehabilitación en el manejo multidisciplinario de niños con fenilcetonuria: a propósito de un caso. Rev Mex Med Fis Rehab. 2013;25(3-4):105-109.
López-Mejía L, Vergara-Vázquez M, Guillén-López S. ¿Qué aspectos considerar al iniciar el tratamiento nutricional para Fenilcetonuria?. Acta Pediatr Mex. 2018;39(Suppl: 1):66-74.

How can we help you?

The dissemination of the content of this material is for informational purposes only and does not replace, under any circumstance or condition, a consultation with a specialist doctor, for which the Saludora Medical Center is not responsible for the different use that may be given to it. If you require more information related to the subject, we suggest you contact the specialist doctor you trust directly.

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Comparison of COVID-19 vaccines

Pfizer-
BioNTech

Pfizer-BioNTech

What is its effectiveness and what does it refer to?

Vaccine type: mRNA
Effectiveness: 95% after the second dose in the prevention of symptomatic COVID-19.

No Does not contain egg, latex, or preservatives.

How many doses are needed?
Two doses are needed, at least 21 days apart (or up to six weeks apart, if necessary).

Who should or shouldn’t get the vaccine?
People who should receive the vaccine are those over 16 years old.
People who should not receive the vaccine are those who have a history of anaphylactic shock (severe allergy) or who are allergic to any component of this vaccine such as polyethylene glycol (PEG) or polysorbate.

What are the possible side effects of the vaccine?
Pain where the injection was given, fatigue, headache, muscle pain, chills, joint pain, fever, nausea, malaise, and swollen lymph nodes.

How long will it take for me to be protected and what does it protect me from?
After 14 days of having the complete scheme (after the administration of the 2nd dose), the protection period is still under study. It protects us from serious COVID-19 or requiring hospitalization.

Moderna

What is its effectiveness and what does it refer to?

Vaccine type: mRNA
Effectiveness: 94.5% after the second dose in the prevention of symptomatic COVID-19.

Does not contain egg, latex, or preservatives.

How many doses are needed?
Two doses are needed, at least 28 days apart (or up to six weeks apart, if necessary).

Who should or shouldn’t get the vaccine?
People who should receive the vaccine are those over 18 years old.
People who should not receive the vaccine are those who have a history of anaphylactic shock (severe allergy) or who are allergic to any component of this vaccine.

What are the possible side effects of the vaccine?
Pain where the injection was given, fatigue, headache, muscle pain, chills, joint pain, fever, nausea, and swollen lymph nodes in the arm in which you received the injection.

Janssen/
Johnson
& Johnson

Janssen/ Johnson & Johnson

What is its effectiveness and what does it refer to?

Vector-based vaccine.
Effectiveness: 72.0% in the prevention of symptomatic COVID-19.
85% in the prevention of severe COVID-19.

Does not contain egg, latex, or preservatives./strong>

How many doses are needed?
Only one dose in needed.

What are the possible side effects of the vaccine?
Pain where the injection was given, headache, fatigue, muscle pain, chills, fever, and nausea.

How long will it take for me to be protected and what does it protect me from?
After 28 days of having the complete scheme (the last dose applied), the protection period is still under study. It protects us from 85% serious COVID-19 or requiring hospitalization.

AstraZeneca
and
Oxford
University

AstraZeneca and Oxford University

What is its effectiveness and what does it refer to?

Adenovirus vector-based vaccine.
Effectiveness: 82% after the second dose in the prevention of symptomatic COVID-19.

How many doses are needed?
Two doses are needed, at least 56 days apart (or up to 84 days apart, if necessary).

What are the possible side effects of the vaccine?
Pain where the injection was given, fatigue, headache, myalgia, arthralgia, and fever, which were mild to moderate in intensity and disappeared within 48 hours of vaccination.

Sputnik V

What is its effectiveness and what does it refer to?

Adenovirus vector-based vaccine.
Effectiveness: 92% after the second dose in the prevention of symptomatic COVID-19.

How many doses are needed?
Two doses are needed, at least 21 days apart (or up to six weeks apart, if necessary).

What is phenylketonuria?

Signs and symptoms Phenylketonuria

Diagnosis and treatment Phenylketonuria

Related centers and departments Phenylketonuria

Fuentes:

Index

Specialist in Phenylketonuria