AN INTERNATIONAL CONFERENCE ON PHENYLKETONURIA IN MOROCCO 3011

Dr Moussayer khadija, 2 y.

- Science - Society - Health -

3 min read.

The 2nd international conference on phenylketonuria (PKU) was held on November 17-19, 2023, in Marrakech. This event was co-organized by 4 associations: The Moroccan Association for Child and Mother’s Health (AMSEM), HMEMSA (Home of Moroccan Educators and Moroccan Students in America), SOS PKU MAROC, American Moroccan Competencies Network, and the support of the Alliance of Rare Diseases in Morocco (AMRM). INFORMATION AND AWARENESS FOR HEALTH PROFESSIONALS AS WELL AS PATIENTS AND FAMILIES This event aimed to promote the health of affected people with this disease through education, awareness, and support for research. PKU is a rare hereditary disease responsible, in the absence of diagnosis and early treatment, for psychomotor and mental retardation with serious consequences. The accumulation of an aminoacid (phenylalanine) becomes toxic and destroys the nerve cells in the brain. The only available treatment is a diet based on dietary products with low amounts of phenylalanine, which are, unfortunately, very expensive. Eminent specialists from Morocco, the United States, Canada, and Europe intervened during the first scientific day. The 2nd day “PKU family camp” was dedicated to families, patients, and medical professionals to exchange the right support for parents with PKU patients and the long-life management of these patients. The day will was also an opportunity for the clinician specialists to offer consultations to patients and psycho-educational support to their families. AN AFFLICTION WITH TOO OFTEN IRREVERSIBLE CONSEQUENCES PKU is caused by a disorder in the metabolism of phenylalanine, an aminoacid (protein fragment) present in food, and typically transformed into another aminoacid, tyrosine. The enzyme responsible for this aminoacid conversion is defective in PKU patients. The PKU babies gradually develop mental and psychomotor retardation with symptoms such as seizures, nausea and vomiting, skin rash, hyperactivity, aggression or self-harm, reduced head circumference (microcephaly), lighter skin, eyes and hair (a result of tyrosine deficiency). Children often have a “mousy” or musty odor due to a phenylalanine by product in their urine and sweat. THE DIET IS “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, then, depending on the case, relaxed during adolescence. The precarious availability in Morocco and the high cost of specific dietary products (flour, special pasta, complementary solutions, etc.) often mean that children “literally starve” to respect these rules. A box of specific milk for children costs around 500 Dh and is rarely available in Morocco! In addition, a medication that stimulates the breakdown of phenylalanine and helps reduce the diet in some children exists but is also unavailable! In addition to the enormous constraints generated by the disease, families experience a “real struggle” between the high cost and unavailability of treatment! We must underline the significant assistance the association HEMSA in the US provided for shipping dietary products to SOS PKU in Morocco and their continuous advocacy efforts to have PKU recognized in Morocco. A LIFE-SAVING GESTURE BUT UNFORTUNATELY NOT SYSTEMATIZED IN MOROCCO : NEONATAL SCREENING Depending on the country, the disease affects between 1 in 20,000 and 1 in 4,000 newborns. Morocco most likely has a high prevalence due to the high consanguinity in the society, which increases the frequency of this genetic disease. Typically, 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 a blotting paper, would make it possible to avoid these complications. The test 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 recognizing PKU as a long-term condition, launching a neonatal screening program, and marketing dietary products in Morocco. The event was an an excellent opportunity to sign partnership agreements between AMSEM and SOS PKU MAROC with the Alliance of Rare Diseases in Morocco. This exciting development will undoubtedly pave the way for fruitful collaboration between these organizations, improve and save lives, reduce PKU patients suffering, and provide substantial spill over benefits for maternal, child, and family health. Dr MOUSSAYER KHADIJA الدكتورة خديجة موسيار Chairwoman of Alliance Rare diseases Morocco RESUME EN FRANÇAIS Les 17 et 18 novembre 2023 s’est tenue à Marrakech la 2ème conférence internationale sur la phénylcétonurie (PCU), coorganisée par 4 entités : Association Marocaine pour la Santé de l’Enfant et de la Mère (AMSEM), HMEMSA (Home of Moroccan Educators and Moroccan Students in America), SOS PKU MAROC, American Moroccan Competencies Network et avec le soutien de l’Alliance des Maladies Rares au Maroc (AMRM). Cet évènement avait pour objectif de promouvoir la santé des personnes atteinte à travers l’éducation, la sensibilisation et le soutien à la recherche. La PCU est une maladie rare héréditaire responsable, en absence de diagnostic et de prise en charge précoce, d’un retard psychomoteur et mental aux conséquences graves, à la suite de la destruction des cellules nerveuses du cerveau par l’accumulation toxique d’un acide aminé (phénylalanine). Le seul traitement est un régime alimentaire se basant sur des produits diététiques faibles en phénylalanine, malheureusement très chers. D’éminents spécialistes du Maroc, des Etats Unis, du Canada et d’Europe sont intervenus lors d’une 1ère journée scientifique. La 2ème journée, le « PKU family camp », a été dédiée aux familles, patients et aussi au corps médical pour échanger et faire connaître les bonnes pratiques au quotidien, notamment pour une meilleure efficience du régime.

[Science #4] Precision Nutrition: Tailoring Your Diet Beyond Hunger and Excess 51

Fatima Zahra EL hajji (Tima EL), 4 h.

- Science - Health -

1.7 min read.

- Science Series -

Hunger and dietary excess may seem like opposite ends of the spectrum, yet both can undermine health. Too few calories disrupt essential physiological processes and energy metabolism, while chronic overeating—especially of nutrient-poor foods—can drive metabolic dysfunction, chronic inflammation, and raise the risk of long-term diseases. Ironically, consuming more nutrients than needed often fails to meet the body’s precise biochemical demands, accelerating cellular wear and potentially shortening lifespan. Emerging research suggests that certain calorie-dense foods, when consumed carelessly, may harm healthspan—the number of healthy years lived. Conversely, mindful nutrient intake—or even periods of moderate hunger—can sometimes benefit overall physiology more than habitual overeating. The key lies in recognizing that each individual’s nutritional needs are unique. This is the foundation of Precision Nutrition. **From "One-Size-Fits-All" to Tailored Nutrition** The term “precision” is often associated with medicine, where a treatment is matched to a patient’s genetic profile instead of relying on a standard prescription. That same philosophy is now transforming the way we think about food. Personalized nutrition moves beyond outdated dietary guidelines by using your genetic makeup, lifestyle, and preferences to determine which foods serve your body best. Your DNA might reveal, for example, that you absorb certain vitamins inefficiently, or that specific foods help stabilize your blood sugar more effectively. This approach empowers you to make dietary choices tailored to your biology—not to fleeting trends. **How Does It Work?** It starts with a DNA sample, analyzed for hundreds of tiny genetic variations known as polymorphisms. These influence traits like lactose intolerance, vitamin D absorption, caffeine metabolism, and sensitivity to salt or sugar. Using advanced algorithms, nutrition scientists translate this data into actionable diet strategies. For instance: - If your genes show low omega-3 absorption, your plan might emphasize fatty fish, flaxseed, or targeted supplements. - If you metabolize caffeine slowly, reducing coffee intake could help avoid sleep problems or anxiety. One striking example comes from the GC gene, which affects how well your body raises blood vitamin D levels after supplementation. People with certain GC variants may require more sunlight exposure or higher supplement doses to achieve optimal health. The power of personalized nutrition lies in decoding the relationship between your genes and every bite you take—turning food into a truly personal form of medicine. A comprehensive understanding of each individual’s unique nutritional needs—driven by genetic, metabolic, microbiome, and lifestyle factors—enables the development of personalized dietary interventions that have transformative potential far beyond individual health. Precision nutrition not only enhances quality of life and healthspan but also offers a pathway to optimize resource use and address global challenges such as hunger and malnutrition. Emerging perspectives highlight that precision nutrition, while often associated with high-income countries, is increasingly seen as a vital strategy to democratize health and tailor nutrition recommendations for entire populations, including those in low- and middle-income countries where malnutrition and food insecurity remain urgent issues. By leveraging advanced technologies and data-driven diagnostics, precision nutrition can target specific micronutrient deficiencies, metabolic conditions, and even genetic variations prevalent in different communities. This targeted approach moves beyond generic dietary guidelines, allowing for more effective, culturally relevant, and sustainable interventions that better meet the biochemical and physiological demands of diverse populations.