mitochondrial DNA depletion syndrome 13
Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene.
Also known as: FBXL4 mitochondrial DNA depletion syndrome, mitochondrial DNA depletion syndrome caused by mutation in FBXL4, mitochondrial DNA depletion syndrome type 13, mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies, BXL4-related early-onset mitochondrial encephalopathy, FBXL4 deficiency, FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome, MTDPS13, encephalomyopathic mitochondrial DNA depletion syndrome-13, mitochondrial DNA depletion syndrome 13 (encephalomyopathic type).
Category: General
Symptoms associated with mitochondrial DNA depletion syndrome 13
The following symptoms have been associated with mitochondrial DNA depletion syndrome 13 in medical literature. Not everyone experiences the same symptoms.
Dysphagia
Difficulty in swallowing....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Focal impaired awareness seizure
Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset s...
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Generalised tonic-clonic seizure without focal onset
A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characteri...
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
Tests used to investigate mitochondrial DNA depletion syndrome 13
Healthcare providers may order these tests when evaluating mitochondrial DNA depletion syndrome 13. 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 mitochondrial DNA depletion syndrome 13, which is why a clinical evaluation is important.
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant progressive external ophthalmoplegia is a medical condition that may be associated with var...
Dursun-Ozgul neurodevelopmental syndrome
Dursun-Ozgul neurodevelopmental syndrome is a medical condition that may be associated with various symptoms a...
RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity
A neurodevelopmental disorder in which the cause of the disease is a variation in RNU5B-1 gene and is characte...
Stolerman neurodevelopmental syndrome
Stolerman neurodevelopmental syndrome is a medical condition that may be associated with various symptoms and ...
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...
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 mitochondrial DNA depletion syndrome 13?
mitochondrial DNA depletion syndrome 13 is a health condition described in medical literature. Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene.
What are the symptoms of mitochondrial DNA depletion syndrome 13?
mitochondrial DNA depletion syndrome 13 is associated with 8 symptoms in the medical literature we index, including Dysphagia, Failure to thrive, Focal impaired awareness seizure, Gastroesophageal reflux, Generalised tonic-clonic seizure without focal onset, Hearing impairment. Symptoms vary widely between individuals.
How is mitochondrial DNA depletion syndrome 13 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with mitochondrial DNA depletion syndrome 13 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 mitochondrial DNA depletion syndrome 13, please discuss your symptoms with a qualified healthcare provider.