An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency.
J Inherit Metab Dis
; 42(4): 598-607, 2019 07.
Article
en En
| MEDLINE
| ID: mdl-30793323
Riboflavin transporter deficiency (RTD) is a rare neurological condition that encompasses the Brown-Vialetto-Van Laere and Fazio-Londe syndromes since the discovery of pathogenic mutations in the SLC52A2 and SLC52A3 genes that encode human riboflavin transporters RFVT2 and RFVT3. Patients present with a deteriorating progression of peripheral and cranial neuropathy that causes muscle weakness, vision loss, deafness, sensory ataxia, and respiratory compromise which when left untreated can be fatal. Considerable progress in the clinical and genetic diagnosis of RTDs has been made in recent years and has permitted the successful lifesaving treatment of many patients with high dose riboflavin supplementation. In this review, we first outline the importance of riboflavin and its efficient transmembrane transport in human physiology. Reports on 109 patients with a genetically confirmed diagnosis of RTD are then summarized in order to highlight commonly presenting clinical features and possible differences between patients with pathogenic SLC52A2 (RTD2) or SLC52A3 (RTD3) mutations. Finally, we focus attention on recent work with different models of RTD that have revealed possible pathomechanisms contributing to neurodegeneration in patients.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Parálisis Bulbar Progresiva
/
Deficiencia de Riboflavina
/
Pérdida Auditiva Sensorineural
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
J Inherit Metab Dis
Año:
2019
Tipo del documento:
Article
Pais de publicación:
Estados Unidos