Results 31 to 40 of about 7,746,465 (115)

Combined isobutyryl‐CoA and multiple acyl‐CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis

JIMD Reports, Volume 63, Issue 4, Page 276-291, July 2022., 2022
Abstract In this report, we describe the case of an 11‐year‐old boy, who came to our attention for myalgia and muscle weakness, associated with inappetence and vomiting. Hypertransaminasemia was also noted, with ultrasound evidence of hepatomegaly. Biochemical investigations revealed acylcarnitine and organic acid profiles resembling those seen in MADD,
Albina Tummolo, Piero Leone, Maria Tolomeo, Rita Solito, Matteo Mattiuzzo, Francesca Romana Lepri, Tania Lorè, Roberta Cardinali, Donatella De Giovanni, Simonetta Simonetti, Maria Barile   +10 more
wiley   +1 more source

Treatment efficacy of high‐dose creatine supplementation in a child with creatine transporter (SLC6A8) deficiency

Molecular Genetics &Genomic Medicine, Volume 9, Issue 4, April 2021., 2021
Abstract Background Creatine transporter deficiency is an inborn error of metabolism caused by a deficiency in the creatine transporter protein encoded by the SLC6A8 gene. Previous treatment with creatine supplementation, either alone or in combination with creatine precursors (arginine or glycine), has been attempted; the efficacy of therapy, however,
Kaili Shi, Huimin Zhao, Shuming Xu, Hong Han, Wenjuan Li   +4 more
wiley   +1 more source

Moving towards clinical trials for mitochondrial diseases

Journal of Inherited Metabolic Disease, Volume 44, Issue 1, Page 22-41, January 2021., 2021
Abstract Primary mitochondrial diseases represent some of the most common and severe inherited metabolic disorders, affecting ~1 in 4,300 live births. The clinical and molecular diversity typified by mitochondrial diseases has contributed to the lack of licensed disease‐modifying therapies available. Management for the majority of patients is primarily
Robert D.S. Pitceathly, Nandaki Keshavan, Joyeeta Rahman, Shamima Rahman   +3 more
wiley   +1 more source

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. [PDF]

, 2013
Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is characterized by progressive ...
Land, John M., Lin, JP, Antony, J, Brandner, Sebastian, Broomfield, Alexander, Menezes, MP, Oppenheim, Marcus, Horvath, Rita, Pandraud, Amelie, Lin, Jean-Pierre, Scherer, Steven S., Abrams, Alexander J., Shah, Ayaz H, Sugano, K, Lim, MJ, Scoto, Mariacristina, Carpenter, Kevin, Megarbane, Andre, Gold, Wendy, Land, JM, Ng, Joanne, Phadke, Rahul, Matsubara, K, Mathew, Ann A., Lim, Ming J., Shah, AH, Lek, Monkol, Foley, AR, Matsubara, Kazuo, Hargreaves, Iain, Foley, A. Reghan, Züchner, S, Manzur, Adnan Y., Lim, Ming J, McCullagh, BG, Mathew, Ann A, Reilly, Mary M, McGarvey, Michael L, Olpin, S, Urtizberea, JA, Scoto, M, Webster, R, Lek, M, Olpin, Simon, Wang, Min X, Reilly, MM, Farrell, Michael O., Burns, J, Houlden, H, McCullagh, B. Gary, Forman, Eva, Burns, Joshua, Straub, Volker, Hargreaves, IP, Houlden, Henry, Gonzalez, Michael A., Megarbane, A, Jungbluth, Heinz, O'Byrne, JJ, Scherer, Steven S, Pandraud, A, Menezes, Manoj P., Hughes, Imelda, O’Byrne, James J, Gonzalez, Michael A, Gold, W, McCullagh, B Gary, Muntoni, Francesco, Züchner, Stephan, Scherer, SS, Baxter, PS, Shah, Ayaz H., Jungbluth, Heinz; id_orcid, Christodoulou, John, O'Byrne, James J, McGarvey, ML, O'Brien, Katherine, Clayton, P, Broomfield, A, Menezes, Manoj P, King, MD, Yonezawa, Atsushi, O'Byrne, James J., Baxter, Peter S, McGarvey, Michael L., Prasad, M, Ng, J, Straub, V, Land, John M, Muntoni, F, Abrams, AJ, Lin, J-P, O’Brien, Katherine, Al-Odaib, A, Rahman, S, Al-Odaib, Ahmad, Zuechner, Stephan, Clayton, Peter, Manzur, Adnan Y, Phadke, R, Reilly, Mary M., Jungbluth, H, Farrell, Michael O, Prasad, Manish, Ouvrier, Robert A, Farrell, MO, Antony, Jayne, Horvath, R, Foley, A Reghan, Forman, E, Manzur, AY, Brandner, S, Hargreaves, I, Gonzalez, MA, Christodoulou, J, Rahman, Shamima, King, Mary D, King, Mary D., Sugano, Kumiko, Hughes, I, Ouvrier, RA, Wang, Min X., Ouvrier, Robert A., Urtizberea, J. Andoni, Webster, Richard, Abrams, Alexander J, Urtizberea, J Andoni, Baxter, Peter S., O'Brien, K, Wang, MX, Mathew, AA, Oppenheim, M, Carpenter, K, Yonezawa, A, Zuechner, S   +134 more
core   +2 more sources

Two Rare Cases of Long Surviving Riboflavin Transporter Deficiency with Co-Existing Adenosine Monophosphate Deaminase (AMP) Deficiency

Brain Sciences, 2022
(1) Background: Riboflavin transporter deficiency (RTD), formerly known as Brown–Vialetto–Van Laere syndrome, is a rare condition that causes a progressive neurological syndrome in early life with features of auditory and optic neuropathy, weakness of ...
Lin Zhang, Dominic Thyagarajan
doaj   +1 more source

Brown-Vialetto-Van Laere syndrome: Case report and literature review

We describe a case of the Brown-Vialetto-Van Laere syndrome, which is a rare disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. More than 30 cases have been reported since the first case was described in 1894.
Nicolson A, Shaw PJ, Sathasivam S, Tilley PJB, O'Sullivan S   +4 more
core   +5 more sources

Functional variation of SLC52A3 rs13042395 predicts survival of Chinese gastric cancer patients

Journal of Cellular and Molecular Medicine, Volume 24, Issue 21, Page 12550-12559, November 2020., 2020
Abstract The solute carrier family 52 member 3 (SLC52A3) gene encodes riboflavin transporter protein which is essential to maintain mitochondrial function in cells. In our research, we found that SLC52A3 rs13042395 C > T variation was significantly associated with poor survival in a 926 Chinese gastric cancer (GCa) patients cohort (CC/CT genotype ...
Xiaofei Qu, Lei Cheng, Liqin Zhao, Lixin Qiu, Weijian Guo   +4 more
wiley   +1 more source

A juvenile ALS‐like phenotype dramatically improved after high‐dose riboflavin treatment

Annals of Clinical and Translational Neurology, Volume 7, Issue 2, Page 250-253, February 2020., 2020
AbstractRiboflavin transporter deficiency (RTD) was recently characterized as a cause of genetic recessive childhood‐onset motor neuron disease (MND) with hearing loss, formerly described as Brown‐Vialetto‐Van‐Lear syndrome. We describe a 18‐year‐old woman with probable RTD mimicking juvenile Amyotrophic Lateral Sclerosis (ALS) who presented with an ...
Christophe Carreau, Timothée Lenglet, Isabelle Mosnier, Ghizlene Lahlou, Guillaume Fargeot, Nicolas Weiss, Sophie Demeret, François Salachas, Alice Veauville‐Merllié, Cécile Acquaviva, Yann Nadjar   +10 more
wiley   +1 more source

Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency

Oxidative Medicine and Cellular Longevity, Volume 2020, Issue 1, 2020., 2020
Riboflavin transporter deficiency (RTD) is a childhood‐onset neurodegenerative disorder characterized by progressive pontobulbar palsy, sensory and motor neuron degeneration, sensorineural hearing loss, and optic atrophy. As riboflavin (RF) is the precursor of FAD and FMN, we hypothesize that both mitochondrial and peroxisomal energy metabolism ...
Fiorella Colasuonno, Alessia Niceforo, Chiara Marioli, Anna Fracassi, Fabrizia Stregapede, Keith Massey, Marco Tartaglia, Enrico Bertini, Claudia Compagnucci, Sandra Moreno, Francesca Danesi   +10 more
wiley   +1 more source

A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin

BMC Medical Genetics, 2019
Background Brown-Vialetto-Van Laere Syndrome (BVVLS), a rare neurological disorder characterized by motor, sensory, and cranial neuronopathies, is mainly associated with defective riboflavin transporters encoded by SLC52A2 and SLC52A3 genes.
Kaili Shi, Zhen Shi, Huifang Yan, Xiaodong Wang, Yanling Yang, Hui Xiong, Qiang Gu, Ye Wu, Yuwu Jiang, Jingmin Wang   +9 more
doaj   +1 more source