Dihydrolipoamide dehydrogenase deficiency in two unrelated Tunisian children
To our knowledge, this is the first Tunisian report of DLDD. Phenotypic spectrum of this disease is very large. Biochemical markers that predict the impairment of the pathways affected by the deficiency of E3 subunit (gluconeogenesis, tricyclic cycle and catabolism of branched chain aminoacids) are variably present. Confirmation is based on genetic study of DLD gene.
Authors
- Élise Lebigot (ORCID: https://orcid.org/0000-0003-0419-8547)
- Hajer Aloulou
- Rim Charfi (ORCID: https://orcid.org/0000-0002-7714-3670)
- I. Chabchoub (ORCID: https://orcid.org/0000-0002-6581-1643)
- Hela Boudabbous
- Amel Ben Chehida (ORCID: https://orcid.org/0000-0001-7880-3215)
- Fatma Charfi (ORCID: https://orcid.org/0000-0003-3987-8972)
- Ines Maaloul
- Thouraya Kammoun
Institutions
- Tunis University (TN)
- University of Sfax (TN)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hôpital La Rabta (TN)
- Hopital Universitaire Hedi Chaker (TN)
- Bicêtre Hospital (FR)
- Faculté de médecine de Tunis
- Tunis El Manar University (TN)
Publication Details
- Journal
- BMC Pediatrics
- Published
- 2025-02-22
- DOI
- https://doi.org/10.1186/s12887-024-05375-w
- Primary Topic
- Biochemical Acid Research Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00