Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children75310.24287/1726-1708-2024-23-1-146-148CLINICAL OBSERVATIONSКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯTriosephosphate isomerase deficiency in a Tunisian case seriesTriosephosphate isomerase deficiency in a Tunisian case serieshttps://orcid.org/0000-0002-0897-8930ElleuchAmal
Tunisia

Elleuch Amal, MD

Department of Pediatric Emergency and Reanimation

30219; El Ain; Sfax

amalelleuch@gmail.comSirineBouzid
Tunisia

Bouzid Sirine

Sfax

sirine_bouzid@medecinesfax.orghttps://orcid.org/0000-0002-3908-9300ImenBoujelben
Tunisia

Boujelben Imen

Genetic department

Sfax

imeneboujelbene@gmail.comBayenMaalej
Tunisia

Maalej Bayen

Pediatric department

Sfax

mm_bayen@yahoo.frMessaoudiTaieb
Tunisia

Taieb Messaoudi

Biochemistry department

Tunis

msst99@rns.tnHassenKammoun
Tunisia

Kammoun Hassen

Genetic department

Sfax

email.hassen.kamoun@gmail.comhttps://orcid.org/0000-0002-7110-016XFaizaSafi
Tunisia

Safi Faiza

Sfax

Hedi Chaker HospitalUniversity Hospital Habib Bourguiba, University of SfaxUniversity Hospital Hedi Chaker, University of SfaxBéchir-Hamza Children's Hospital190420242311461481208202329082023Copyright ©; 2024, «D. Rogachev NMRCPHOI»Copyright ©; 2024, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2024«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/753

   Triosephosphate isomerase deficiency (TPID) is the most severe glycolytic enzyme defect associated with a progressive neurologic dysfunction. It typically causes hemolytic anemia, neurodegeneration, and recurrent bacterial infections. TPID is caused by a homozygous or a compound heterozygous mutation in the TPID gene. The most frequent variant is Glu104Asp. We report a case series from three unrelated Tunisian families affected by TPID caused by a homozygous Glu104Asp mutation. These reported cases had severe hemolytic anemia. Informed consent was obtained from patients’ parents.

   Triosephosphate isomerase deficiency (TPID) is the most severe glycolytic enzyme defect associated with a progressive neurologic dysfunction. It typically causes hemolytic anemia, neurodegeneration, and recurrent bacterial infections. TPID is caused by a homozygous or a compound heterozygous mutation in the TPID gene. The most frequent variant is Glu104Asp. We report a case series from three unrelated Tunisian families affected by TPID caused by a homozygous Glu104Asp mutation. These reported cases had severe hemolytic anemia. Informed consent was obtained from patients’ parents.

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