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 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 spoke 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 was 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”

1. International Conference on Phenylketonuria inMorocco
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 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 spoke 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

2. long-life management of these patients. The day was 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 provided 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.

3. Dr MOUSSAYER KHADIJA ‫اﻟدﻛﺗورة‬
‫ﺧدﯾﺟﺔ‬
‫ﻣوﺳﯾﺎر‬
President Alliance Rare diseases Morocco
‫اﺧﺗﺻﺎﺻﯾﺔ‬
‫ﻓﻲ‬
‫اﻟطب‬
‫اﻟﺑﺎطﻧﻲ‬
‫و‬
‫أﻣراض‬
‫اﻟﺷﯾﺧوﺧﺔ‬
‫رﺋﯾﺳﺔ‬
‫اﻟﺟﻣﻌﯾﺔ‬
‫اﻟﻣﻐرﺑﯾﺔ‬
‫ﻷﻣراض‬
‫اﻟﻣﻧﺎﻋﺔ‬
‫اﻟذاﺗﯾﺔ‬
‫و‬
‫واﻟﺟﮭﺎزﯾﺔ‬
,
‫رﺋﯾﺳﺔ‬
‫اﺋﺗﻼف‬
‫اﻷﻣراض‬
‫اﻟﻧﺎدرة‬
‫اﻟﻣﻐرب‬
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
Conférence internationale sur la phénylcétonurie, MODALITES PRATIQUES DE
LA CONFERENCE, ‫اﻟﻣؤﺗﻣر‬
‫اﻟدوﻟﻲ‬
‫ﻟﻣرض‬
‫ﺑﯾﻠﺔ‬
‫اﻟﻔﯾﻧﯾل‬
‫ﻛﯾﺗون‬
Conférence internationale sur la phénylcétonurie
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. Une journée encadrée par des spécialistes qui
offriront des consultations aux patients et un appui psychopédagogique à leurs familles.

4. ‫اﻟﻣؤﺗﻣر‬
‫اﻟدوﻟﻲ‬
‫ﻟﻣرض‬
‫ﺑﯾﻠﺔ‬
‫اﻟﻔﯾﻧﯾل‬
‫ﻛﯾﺗون‬
‫ﺳﯾﻧﻌﻘد‬
‫ﯾوﻣﻲ‬
17
‫و‬
18
‫ﻧوﻓﻣﺑر‬
2023
،‫ﺑﻣراﻛش‬
‫اﻟﻣؤﺗﻣر‬
‫اﻟدوﻟﻲ‬
‫اﻟﺛﺎﻧﻲ‬
‫ﻣرض‬ ‫ﺣول‬
‫ﺑﯾﻠﺔ‬
‫اﻟﻔﯾﻧﯾل‬
، ‫ﻛﯾﺗون‬
‫ﺑﺗﻧظﯾم‬
‫ﻣﺷﺗرك‬
‫ﻣن‬
‫ﻗﺑل‬
4
‫ﻣﻧظﻣﺎت‬
:
‫اﻟﺟﻣﻌﯾﺔ‬
‫اﻟﻣﻐرﺑﯾﺔ‬
‫ﻟﺻﺣﺔ‬
‫اﻟطﻔل‬
،‫واﻷم‬
‫ﺟﻣﻌﯾﺔ‬
‫ﺑﯾت‬
‫اﻟﻣﻌﻠﻣﯾن‬
‫واﻟطﻼب‬
‫اﻟﻣﻐﺎرﺑﺔ‬
‫ﻓﻲ‬
‫أﻣرﯾﻛﺎ‬ ) ‫ﺣﻣﯾﻣﺻﺔ‬
(
‫ﺟﻣﻌﯾﺔ‬،
‫اﻧﻘﺎد‬
‫ﻣرﺿﻰ‬
‫اﻟﻔﻧﯾل‬
‫ﻛﯾﺗون‬
‫ﻓﻲ‬
‫اﻟﻣﻐرب‬
،
‫ﺷﺑﻛﺔ‬
‫اﻟﻛﻔﺎءات‬
‫اﻷﻣرﯾﻛﯾﺔ‬ ‫اﻟﻣﻐرﺑﯾﺔ‬
‫وﺑدﻋم‬
‫ﻣن‬
‫ﺗﺣﺎﻟف‬
‫اﻷﻣراض‬
‫اﻟﻧﺎدرة‬
‫ﻓﻲ‬
‫اﻟﻣﻐرب‬ .
‫ﺗوﻋﯾﺔ‬
‫و‬
‫إرﺷﺎد‬
‫اﻟﻌﺎﻣﻠﯾن‬
‫ﻓﻲ‬
‫ﻣﺟﺎل‬
‫اﻟﺻﺣﺔ‬
‫وﻛذﻟك‬
‫اﻟﻣرﺿﻰ‬
‫وأﺳرھم‬
‫ﯾﮭدف‬
‫ھذا‬
‫اﻟﺣدث‬
‫إﻟﻰ‬
‫ﺗﻌزﯾز‬
‫ﺻﺣﺔ‬
‫اﻷﺷﺧﺎص‬
‫اﻟﻣﺗﺿررﯾن‬
‫ﻣن‬
‫ﺧﻼل‬
‫اﻟﺗﻌﻠﯾم‬
‫واﻟﺗوﻋﯾﺔ‬
‫ودﻋم‬
‫اﻟﺑﺣوث‬
.
‫ﻣرض‬
‫ﺑﯾﻠﺔ‬
‫اﻟﻔﯾﻧﯾل‬
‫ﻛﯾﺗون‬
‫ﻣرض‬،
‫وراﺛﻲ‬
‫ﻧﺎدر‬
،‫ﻣﺳﺋول‬
‫ﻓﻲ‬
‫ﻏﯾﺎب‬
‫اﻟﺗﺷﺧﯾص‬
‫واﻟﻌﻼج‬
،‫اﻟﻣﺑﻛر‬
‫ﻋن‬
‫إﻋﺎﻗﺔ‬
‫ذھﻧﯾﺔ‬
‫ﻻ‬
‫رﺟﻌﺔ‬
،‫ﻓﯾﮭﺎ‬
‫ﺑﻌد‬
‫ﺗدﻣﯾر‬
‫اﻟﺧﻼﯾﺎ‬
‫اﻟﻌﺻﺑﯾﺔ‬
‫ﻟﻠدﻣﺎغ‬
‫ﺑﺳﺑب‬
‫اﻟﺗراﻛم‬
‫اﻟﺳﺎم‬
‫ﻟﺣﻣض‬
‫أﻣﯾﻧﻲ‬
)
‫ﻓﯾﻧﯾل‬
‫أﻻﻧﯾن‬
.(
‫اﻟﻌﻼج‬
‫اﻟوﺣﯾد‬
‫ھو‬
‫إﺗﺑﺎع‬
‫ﺣﻣﯾﺔ‬
‫ﻏذاﺋﯾﺔ‬
‫ﯾﻌﺗﻣد‬
‫ﻋﻠﻰ‬
‫ﻣﻧﺗﺟﺎت‬
‫ﻣﻧﺧﻔﺿﺔ‬
‫ﻣن‬
‫اﻟﻔﯾﻧﯾل‬
،‫أﻻﻧﯾن‬
‫وھﻲ‬
‫ﻟﻸﺳف‬
‫ﺑﺎھظﺔ‬
‫اﻟﺛﻣن‬
.
‫ﺳﯾﺟﻣﻊ‬
‫ھذا‬
‫اﻟﻠﻘﺎء‬
‫ﻣﺗﺧﺻﺻون‬
‫ﺑﺎرزون‬
‫ﻣن‬
‫اﻟﻣﻐرب‬
‫واﻟوﻻﯾﺎت‬
‫اﻟﻣﺗﺣدة‬
‫وأوروﺑﺎ‬
‫و‬
‫ﻛﻧدا‬
‫و‬
‫ذاﻟك‬
‫ﺧﻼل‬
‫اﻟﯾوم‬
‫اﻟدراﺳﻲ‬
‫اﻷول‬
‫اﻟﻣﺧﺻص‬
‫ﻟﻣﮭﻧﻲ‬
‫اﻟﺻﺣﺔ‬
.
‫ﺳﯾﺗم‬
‫ﺗﻛرﯾس‬
‫اﻟﯾوم‬
،‫اﻟﺛﺎﻧﻲ‬
"
‫ﻣﻌﺳﻛر‬
‫ﻣرﺿﻰ‬ ‫ﻋﺎﺋﻼت‬
‫ﺑﯾﻠﺔ‬
‫اﻟﻔﯾﻧﯾل‬
‫ﻛﯾﺗون‬
"
،
‫ﻟﻠﻌﺎﺋﻼت‬
‫واﻟﻣرﺿﻰ‬
‫وﻛذﻟك‬
‫ﻟﻣﮭﻧﯾﻲ‬
‫اﻟﺻﺣﺔ‬
‫ﻟﺗﺑﺎدل‬
‫اﻟﺧﺑرات‬
‫وﺑﺎﻟﺗﺎﻟﻲ‬
‫ﺗﺑﻧﻲ‬
‫ﻣﻣﺎرﺳﺎت‬
‫ﺟﯾدة‬
‫ﻓﻲ‬
‫اﻹدارة‬
‫اﻟﯾوﻣﯾﺔ‬
،‫ﻟﻠﻣرض‬
‫وﻻ‬
‫ﺳﯾﻣﺎ‬
‫ﻟﺗﺣﺳﯾن‬
‫ﻓﻌﺎﻟﯾﺔ‬
‫اﻟﻧظﺎم‬
‫اﻟﻐذاﺋﻲ‬
.
‫ﯾﺷرف‬
‫ﻋﻠﻲ‬
‫ھذا‬
‫اﻟﯾوم‬
‫اﻟﺛﺎﻧﻲ‬
،
‫ﻣﺗﺧﺻﺻون‬
‫ﺳﯾﺗﻘدﻣون‬
‫ﺑﺎﺳﺗﺷﺎرة‬
‫اﻟﻣرﺿﻰ‬
‫واﻟدﻋم‬
‫اﻟﻧﻔﺳﻲ‬
‫ﻷﺳرھم‬
.
‫آﻓﺔ‬
‫ﻟﮭﺎ‬
‫ﻋواﻗب‬
‫ﻻ‬
‫رﺟﻌﺔ‬
‫ﻓﯾﮭﺎ‬
‫ﻓﻲ‬
‫ﻛﺛﯾر‬
‫ﻣن‬
‫اﻷﺣﯾﺎن‬
‫ﯾﻧﺟم‬
‫ﻣرض‬
‫ﺑﯾﻠﺔ‬
‫اﻟﻔﯾﻧﯾل‬
‫ﻛﯾﺗون‬
‫ﻋن‬
‫اﺿطراب‬
‫ﻓﻲ‬
‫اﺳﺗﻘﻼب‬
‫اﻟﻔﯾﻧﯾل‬
،‫أﻻﻧﯾن‬
‫وھو‬
‫ﺣﻣض‬
‫أﻣﯾﻧﻲ‬
)
‫ﺟزء‬
‫ﻣن‬
‫اﻟﺑروﺗﯾن‬
(
‫ﻣوﺟود‬
‫ﻓﻲ‬
‫اﻟطﻌﺎم‬
‫وﯾﺗﺣول‬
‫ﻋﺎدة‬
‫إﻟﻰ‬
‫ﺣﻣض‬
‫أﻣﯾﻧﻲ‬
،‫آﺧر‬
،‫ﺗﯾروزﯾن‬
‫ﺑواﺳطﺔ‬
‫إﻧزﯾم‬
‫اﻟذي‬
‫ﯾﻛون‬
‫ﻣﻌﯾﺑﺎ‬
‫ﻋﻧد‬
‫ﺣﺎﻣﻠﻲ‬
‫اﻟﻣرض‬
.
‫ﯾﺻﺎب‬
‫اﻷطﻔﺎل‬
‫ﺑﺎﻟﺗﺧﻠف‬
‫اﻟﻌﻘﻠﻲ‬
‫واﻟﺣرﻛﻲ‬
‫ًﺎ‬‫ﯾ‬‫ﺗدرﯾﺟ‬
‫ﻣﻊ‬
‫أﻋراض‬
‫ﻣﺛل‬
:
‫ﻧوﺑﺎت‬ ‫ﺻرع‬
،
‫واﻟﻐﺛﯾﺎن‬
،‫واﻟﻘﻲء‬
‫واﻟطﻔﺢ‬
‫اﻟﺟﻠدي‬
‫اﻟﺷﺑﯾﮫ‬
،‫ﺑﺎﻹﻛزﯾﻣﺎ‬
‫وﻓرط‬
،‫اﻟﻧﺷﺎط‬
‫واﻟﻌدوان‬
‫أو‬
‫إﯾذاء‬
،‫اﻟﻧﻔس‬
‫واﻧﺧﻔﺎض‬
‫ﻣﺣﯾط‬
‫اﻟرأس‬
‫و‬
‫اﻟدﻣﺎغ‬
)
‫ﺻﻐر‬
‫اﻟرأس‬
(
،
‫و‬
‫ﻓﺎﺗﺣﺎ‬ ‫واﻟﻌﯾﻧﯾن‬ ‫واﻟﺷﻌر‬ ‫اﻟﺟﻠد‬ ‫ﻟون‬ ‫ﯾﻛون‬
،
‫اﻷﻣر‬
‫اﻟﻧﺎﺗﺞ‬
‫ﻋن‬
‫ﻧﻘص‬
‫اﻟﺗﯾروزﯾن‬
...
ً‫ﺎ‬‫ﻏﺎﻟﺑ‬
‫ﻣﺎ‬
‫ﯾﺻدر‬
‫اﻷطﻔﺎل‬
‫راﺋﺣﺔ‬
‫ﻋﻔﻧﺔ‬
‫ﺑﺳﺑب‬
‫وﺟود‬
‫ﻣﻧﺗﺞ‬
‫ﺛﺎﻧوي‬
‫ﻟﻠﻔﯾﻧﯾل‬
‫أﻻﻧﯾن‬
‫ﻓﻲ‬
‫اﻟﺑول‬
‫واﻟﻌرق‬
.
Partnership agreements between AMSEM and SOS PKU MAROC with the Alliance of Rare Diseases