Riboflavin transporter deficiency
Riboflavin transporter deficiency is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with Riboflavin transporter deficiency
The following symptoms have been associated with Riboflavin transporter deficiency in medical literature. Not everyone experiences the same symptoms.
Bulbar palsy
Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X...
Dysphagia
Difficulty in swallowing....
Facial palsy
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to contr...
Hypertension
The presence of chronic increased pressure in the systemic arterial system....
Limb muscle weakness
Reduced strength and weakness of the muscles of the arms and legs....
Muscle weakness
Reduced strength of muscles....
Progressive hearing impairment
A progressive form of hearing impairment....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tremor
An unintentional, oscillating to-and-fro muscle movement about a joint axis....
Tests used to investigate Riboflavin transporter deficiency
Healthcare providers may order these tests when evaluating Riboflavin transporter deficiency. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with Riboflavin transporter deficiency, which is why a clinical evaluation is important.
Alexander disease
Alexander disease is a medical condition that may be associated with various symptoms and signs....
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant progressive external ophthalmoplegia is a medical condition that may be associated with var...
Morimoto-Ryu-Malicdan neuromuscular syndrome
Morimoto-Ryu-Malicdan neuromuscular syndrome is a medical condition that may be associated with various sympto...
Myasthenia gravis
Myasthenia gravis is a medical condition that may be associated with various symptoms and signs....
intellectual disability, autosomal dominant 43
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation i...
multiple mitochondrial dysfunctions syndrome 9b
A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is c...
Frequently Asked Questions
What is Riboflavin transporter deficiency?
Riboflavin transporter deficiency is a health condition described in medical literature. Riboflavin transporter deficiency is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Riboflavin transporter deficiency?
Riboflavin transporter deficiency is associated with 9 symptoms in the medical literature we index, including Bulbar palsy, Dysphagia, Facial palsy, Hypertension, Limb muscle weakness, Muscle weakness. Symptoms vary widely between individuals.
How is Riboflavin transporter deficiency diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Riboflavin transporter deficiency include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have Riboflavin transporter deficiency, please discuss your symptoms with a qualified healthcare provider.