JNNP: Late-oncological vitamin B2 transport protein deficiency is associated with various causes of motor neuropathy

Nucleolanin transport protein defects (RTDs) involving the SLC52A3 and SLC52A2 genes, nucleolutin or vitamin B2 (7,8-dmyl-10-trimethyl isohexyxyxone) is an important water-soluble vitamin and is a prelude to the single nucleotides and jaundice adenine disucleotides.
these coenzymes play an auxiliary role in many cytoenzyme reactions, especially in energy metabolism (mitochondrial β oxidation) and amino acid and lipid synthesis.
intake of nucleofictin comes from milk, meat, oily fish and green vegetables, with a daily intake of 0.4 mg for children and 1.6 mg for lactating women.
SLC52A2 and SLC52A3 proteins have different tissue distributions and act as nucleotin from the digestive chamber to cells in different organs, including the central nervous system.
studies have shown that RTDs have been linked in recent years to brown Vialetto Van Laere (BVVL) syndrome, a genetic disorder associated with motor neuropathy (MN) and deafness.
bvvl/RTD is rarely reported in adult patients, but may be underdiagnosed due to a lack of awareness of bvvl/RTD by neurologians.
study, we looked at esopes and prognostics of late-onset MN in RTD patients.
: Retrospectively collect clinical, biological, and electrophysiological data from all French RTD patients who have MN after the age of 10 (n-6) and extract data from 19 other RTD-like patients.
25 patients were included in the study.
each patient in the queue is divided into one of four different MN esoteric types: (1) lower motor neuron (LMN) syndrome of amyotrophobic lateral sclerosis (ALS) or far-end hereditary motor neuropathy (dHMN), with diffuse MN and chronic pathology; MN first affects brain nerves, including I and VIII nerves; (3) acute motor neuropathy (AMN) is similar to inflammatory neuropathy (Guillain-Barrésyndrome) and (4) a mixture of motion and sensory neuropathy (MSN), with the frontal corner of the spinal cord as a motor neuron, and the back root nerve joint as a sensory neuron, with no length dependence, movement and sensory separation.
Results: Adult patients with RTD with MN had different clinical manifestations, which may be similar to amyotrophic lateral sclerosis or far-end hereditary motor neuropathy (56%), multiple moles (16%) of tired cranial nerves, Green-Barre syndrome (8%) and mixed motor and sensory neuropathy syndrome (SLC52A2 patients only).
are usually diagnosed before MN (44%), but in some patients, deafness starts with MN (16%).
the typical bridge cerebral palsy described in BVVL is not constant.
bio-chemical testing is usually normal.
most patients improved (86%) after being supplemented with nucleoskrin.
Although late-oncercation RTD may reflect different obtainable or genetic causes of motor neuropathy, this is a symptom worth studying because each oral high dose of cytolline is usually very effective.
Carreau C, Benoit C, Ahle G, et al Late-onset riboflavin transporter defy: a treatable mimic of a various motor neuropathy aetiologies Journal of Neurology, Neurosurgery and Psython Published Online First: 21 October 2020. doi: 10.1136/jnnp-2020-323304MedSci Original Source: MedSci Original Copyright Notice: All text, images and audio and video materials on this website that indicate "Source: Met Medical" or "Source: MedSci Original" are owned by Mets Medicine and are not authorized to reproduce any media, website or individual, "Source: Metz Medicine" shall be indicated at the time of authorization for reprint.
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