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Riboflavin transporter deficiency

MONDO:0008891

A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.

Also known as: Brown-Vialetto-van Laere syndrome, Fazio-Londe syndrome, disorder of riboflavin transmembrane transporter activity, riboflavin transmembrane transporter activity disease, sensorineural hearing loss-pontobulbar palsy syndrome, Brown-Vialetto-Van Laere syndrome 1, BVVLS, BVVLS1

16 clinical trials for this condition and its sub-types, 1 tagged with Riboflavin transporter deficiency itself.

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Where it sits in the disease tree

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↑ Hereditary motor neuron disease (169)

Sub-types of Riboflavin transporter deficiency

Progressive bulbar palsy 5 trials
1 sub-type
- Progressive bulbar palsy of childhood 0 trials
Brown-Vialetto-van Laere syndrome 1 0 trials
Brown-Vialetto-van Laere syndrome 2 0 trials

Including sub-types (16) Tagged with Riboflavin transporter deficiency (1)

Not yet finished but already full! 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Riboflavin transporter deficiency

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth