The 2nd international conference on phenylketonuria (PKU) will be held on November 17-19, 2023, at Zephyr Hotel Club Resort in Marrakech. This event is 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 aims 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 will speak during the first scientific day. The 2nd day “PKU family camp” will be 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 be 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: 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 will provide 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 the doctor Khadija Musiar
President Alliance Rare diseases Morocco
Specialist in Medicine Esoteric And illnesses Aging
President of the Moroccan Society of Autoimmune and Systemic Diseases, President of the Rare Diseases Morocco Coalition
Dr Kamal Elbissati President of the Moroccan Association for Child and Mother’s Health
Assistant Professor , University of Chicago, School of Medicine
APPENDICES IN FRENCH AND ARABIC
International conference on phenylketonuria, PRACTICAL ARRANGEMENTS FROM THE CONFERENCE, International conference on phenylketonuria
International Conference on Phenylketonuria
On November 17 and 18, 2023, the 2nd international conference on phenylketonuria (PKU) will be held in Marrakech, at the Zephyr hotel, co-organized by 4 entities: 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 with the support of the Alliance of Rare Diseases in Morocco (AMRM).
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.
PRACTICAL ARRANGEMENTS OF THE CONFERENCE
location: Hôtel Zéphyr Hôtel Club Ressort, Marrakech.
Entrance fees to the medical profession: 200 Dh/day for student/resident doctors and 300Dh/professionals
Patients and their families are welcome.
Registration: You must register either on the site http://pkumaroc.ma/ or send e-mails to [email protected]
Accommodation: you must contact the hotel directly for reservations
International conference on phenylketonuria
The Second International Conference on Phenylketonuria will be held on November 17 and 18, 2023 in Marrakesh, jointly organized by 4 organizations: the Moroccan Association for Child and Maternal Health, the Association of Moroccan Teachers and Students in America (Hamisa), the Association for the Rescue of Phenylketonuria Patients in Morocco, the Network Moroccan-American competencies, with support from the Rare Disease Alliance in Morocco.
Educating and guiding health workers as well as patients and their families
This event aims to promote the health of affected people through education, awareness and research support. Phenylketonuria is a rare genetic disease that, in the absence of early diagnosis and treatment, causes irreversible intellectual disability, after the nerve cells of the brain are destroyed due to the toxic accumulation of the amino acid (phenylalanine). The only treatment is a diet based on products low in phenylalanine, which is unfortunately expensive.
This meeting will bring together prominent specialists from Morocco, the United States, Europe and Canada during the first academic day dedicated to health professionals. The second day, “Phenylketonuria Families Camp”, will be dedicated to families and patients as well as health professionals to exchange experiences and thus adopt good practices in the daily management of the disease, in particular to improve the effectiveness of the diet. This second day will be supervised by specialists who will provide advice to patients and psychological support to their families.
A lesion that often has irreversible consequences
Phenylketonuria is caused by a disorder in the metabolism of phenylalanine, an amino acid (part of protein) found in food that is normally converted to another amino acid, tyrosine, by an enzyme that is defective in carriers of the disease. Children gradually develop mental and motor retardation with symptoms such as: epileptic seizures, nausea and vomiting, eczema-like rashes, hyperactivity, aggression or self-harm, reduced head and brain circumference (microcephaly), and light-coloured skin, hair and eyes, which results from Tyrosine deficiency… Children often produce a musty odor due to the presence of a byproduct of phenylalanine in urine and sweat.