mitochondrial DNA depletion syndrome 8a
Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene.
Also known as: RRM2B mitochondrial DNA depletion syndrome, mitochondrial DNA depletion syndrome caused by mutation in RRM2B, mitochondrial DNA depletion syndrome type 8a, mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy, MTDPS8A, RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic type with renal tubulopathy, mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy).
Category: General
Symptoms associated with mitochondrial DNA depletion syndrome 8a
The following symptoms have been associated with mitochondrial DNA depletion syndrome 8a in medical literature. Not everyone experiences the same symptoms.
Diarrhea
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day....
External ophthalmoplegia
Paralysis of the external ocular muscles....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Status epilepticus
Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsi...
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
Weight loss
Reduction of total body weight....
Tests used to investigate mitochondrial DNA depletion syndrome 8a
Healthcare providers may order these tests when evaluating mitochondrial DNA depletion syndrome 8a. 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 8a, which is why a clinical evaluation is important.
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celiac disease, susceptibility to, 1
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mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
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Frequently Asked Questions
What is mitochondrial DNA depletion syndrome 8a?
mitochondrial DNA depletion syndrome 8a 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 RRM2B gene.
What are the symptoms of mitochondrial DNA depletion syndrome 8a?
mitochondrial DNA depletion syndrome 8a is associated with 7 symptoms in the medical literature we index, including Diarrhea, External ophthalmoplegia, Failure to thrive, Seizure, Status epilepticus, Vomiting. Symptoms vary widely between individuals.
How is mitochondrial DNA depletion syndrome 8a 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 8a 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 8a, please discuss your symptoms with a qualified healthcare provider.