Phenylketonuria: children are dying to follow the diet
The phenylketonuria is a rare genetic disease caused by a deficiency in phenylalanine hydrolase, an enzyme responsible for transforming one amino acid (phenylalanine) into another amino acid (tyrosine) in our body. When this transformation is not carried out, phenylalanine accumulates in the blood, and becomes toxic to the brain.
In the event that neonatal diagnosis is not made, the symptoms of phenylketonuria appear quickly after birth and can be more or less severe depending on the form of the disease, a fairly pronounced delay in the mental development of the child, a delay in growth, behavioral disorders (hyperactivity) and motor skills, convulsions and tremors, vomiting, eczema, microcephaly (abnormally small size of the skull)… The only treatment is a diet low in phenylalanine, i.e. a very clear reduction in dietary protein intake.
This diet must be implemented from neonatal screening and followed throughout life. A very expensive diet for which not all families in intermediate or poor countries have the means to buy products and which ends up restricting children’s diet. So much so that children literally die of starvation so as not to aggravate their disorder! –
An evil with too often irreversible consequences
Phenylketonuria (PKU) is caused by a disorder in the metabolism of phenylalanine, an amino acid (protein fragment) present in food and normally transformed into another amino acid, tyrosine, by an enzyme which is defective. in PKU carriers. These babies gradually develop intellectual and psychomotor delays with symptoms such as lighter skin, eyes and hair (a result of tyrosine deficiency)… Children often give off a “mouse” or musty odor due to the presence of a phenylalanine byproduct in their urine and sweat.
The diet “an almost impossible mission”
The child must follow a very strict low-protein diet, where meat, fish, eggs, dairy products, and starchy foods are eliminated until the age of 12. The precarious availability in Morocco and the very high cost of specific dietary products (flour, special pasta, complementary solutions, etc.) often mean that children have difficulty being fed to respect these rules. A box of specific milk for children costs around 50 EUROS (500 Moroccan dirhams) and is not even often available in Morocco! In addition, a drug that stimulates the breakdown of phenylalanine and helps reduce the diet in certain children exists but… is also not available! In addition to the enormous constraints generated by the disease, families therefore experience a “real struggle” between the high cost and unavailability of treatment! We must underline the significant assistance (specific products, etc.) provided by the patient aid associations HEMSA and SOS PKU which then distribute it.
A life-saving gesture but unfortunately not systematized: neonatal screening
The disease affects between 1 in 20,000 and 1 in 4,000 newborns depending on the country. This last figure is most likely in Morocco due to the strong existing consanguinity, which increases the frequency of this genetic disease. Normally, this disease must be screened systematically in all newborns; the absence of this screening and the early regime results in several thousand children and adults with mental disabilities. This test, carried out using a few drops of blood taken on the 3rd day of life and placed on blotting paper, would nevertheless make it possible to avoid them, as already exists in all European and certain Arab countries.
Consultation with public authorities
Discussions are underway with the Ministry of Health and the various stakeholders for: the recognition of PKU as a long-term condition (ALD), the launch of a neonatal screening program and the marketing of dietary products. . The event was finally used for the signing of partnership agreements between AMSEM and SOS PKU MAROC with the Alliance of Rare Diseases in Morocco.
Casablanca,
Dr. MOUSSAYER Dr. Khadija Moussayer President of the Alliance Maladies Rare in Maroc (AMRM)
TO KNOW MORE : THREE DAYS FOR CHILDREN WITH PHENYLCETONURIA IN MOROCCO, A defective enzyme: phenylalanine hydroxylase, Robert Guthrie: the father of the screening test, International PKU Day, Bibliography, Large photo gallery
THREE DAYS FOR CHILDREN OF PHENYLCETONURIA IN MOROCCO
On November 17 and 18, 2023, the 2nd international conference on phenylketonuria (PKU) was held in Marrakech, co-organized by 4 entities: Moroccan Association for Child and Maternal Health (AMSEM), HMEMSA (Home of Moroccan Educators and Moroccan Students in America), SOS PKU MAROC, American Moroccan Competencies Network and with the support of the Rare Disease Alliance in Morocco (AMRM).
Information and awareness for health professionals as well as patients and families
This event aims to promote the health of affected people through education, awareness and support for research. PKU is a rare hereditary disease responsible, in the absence of diagnosis and early treatment, of psychomotor and mental retardation with serious consequences, following the destruction of nerve cells in the brain by the toxic accumulation of a amino acid (phenylalanine). The only treatment is a diet based on dietary products low in phenylalanine, which are unfortunately very expensive.
Eminent specialists from Morocco, the United States, Canada and Europe will speak during a first scientific day. The 2nd day, the “PKU family camp”, will be dedicated to families, patients and also the medical profession to exchange and share good daily practices, particularly for better efficiency of the regime. A day supervised by specialists who will offer consultations to patients and psycho-educational support to their families.
A VERY VARIABLE FREQUENCY DEPENDING ON COUNTRIES
The number of cases of the disease differs between countries and geographic areas, but varies between 1 in 25,000 newborns and 1 in 2,600. The disease is most prevalent in Ireland, Iceland and Turkey. However, it remains very rare in Finland and Thailand. In France, the frequency is 1/17,000 births
A FAILING ENZYME: PHENYLALANINE HYDROXYLASE
An enzyme called phenylalanine hydroxylase (PAH) is needed to treat a amino acid called phenylalanine (Phe), present in foods containing proteins. (Proteins are made up of about 20 distinct building blocks called amino acids). Protein-rich foods include dairy, red meat, chicken, fish, eggs, nuts, beans… When we eat protein, it is broken down into different amino acids and used for growth, function and repair of the body. Since people with PKU cannot break down phenylalanine in the usual way, it accumulates in the blood and damages the brain.
ROBERT GUTHRIE: the father of the screening test
Robert Guthrie was born on June 28, 1916. He invented the possibility of newborn screening. This test is also known as “Guthrie test”. Professor Guthrie had a niece sick with PKU and wanted to find a way to diagnose people born with PKU at birth and ensure that all babies born were screened for PKU. He invented the heel prick test, also known as the Guthrie test, for all newborns. He campaigned tirelessly in several countries for the adoption of newborn screening and saved thousands of lives in the process.
THE SCREENING TEST
Since January 2023, neonatal screening has been expanded to seven new diseases. Six diseases were already looked for during this examination. The Guthrie test can now detect thirteen rare and serious diseases: congenital hypothyroidism, phenylketonuria, congenital adrenal hyperplasia, cystic fibrosis, sickle cell disease, medium-chain fatty acid acyl-CoA dehydrogenase deficiency or MCAD deficiency, homocystinuria, leucinosis, type tyrosinemia 1, isovaleric aciduria, glutaric aciduria type 1, 3-hydroxyacyl-coenzyme A dehydrogenase deficiency of long-chain fatty acids and primary carnitine deficiency
INTERNATIONAL PKU/PCU DAY
International PKU Day is an idea born from ESPKU (European Society for Phenylketonuria and Related Disorders Treated as Phenylketonuria). With the support of delegates, the first PCU Day took place in 2013. PCU Day will take place on June 28.
USEFUL BIBLIOGRAPHY
Orphanet : : www.orphanet.fr
The Rare Diseases Platform: http://www.plateforme-maladiesrares.org/
ALLIANCE maladies rares : http://www.alliance-maladies-rares.org/
EURORDIS http://www.eurordis.org/