mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.
Also known as: booth-Haworth-Dilling syndrome, mitochondrial DNA depletion syndrome 5, mitochondrial DNA depletion syndrome type 5, mitochondrial encephalomyopathy-aminoacidopathy syndrome, mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, MTDPS5, encephalomyopathy, mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive, mitochondrial encephalomyopathy aminoacidopathy.
Category: General
Symptoms associated with mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
The following symptoms have been associated with mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria in medical literature. Not everyone experiences the same symptoms.
Facial diplegia
Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial ...
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Generalized-onset seizure
A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilat...
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Respiratory insufficiency due to muscle weakness
Information about Respiratory insufficiency due to muscle weakness....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve....
Tests used to investigate mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Healthcare providers may order these tests when evaluating mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria. 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, encephalomyopathic form with methylmalonic aciduria, 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...
Morimoto-Ryu-Malicdan neuromuscular syndrome
Morimoto-Ryu-Malicdan neuromuscular syndrome is a medical condition that may be associated with various sympto...
cardiofaciocutaneous syndrome 1
Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene....
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, encephalomyopathic form with methylmalonic aciduria?
mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is a health condition described in medical literature. Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.
What are the symptoms of mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria?
mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is associated with 8 symptoms in the medical literature we index, including Facial diplegia, Failure to thrive, Gastroesophageal reflux, Generalized-onset seizure, Hearing impairment, Respiratory insufficiency due to muscle weakness. Symptoms vary widely between individuals.
How is mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 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, encephalomyopathic form with methylmalonic aciduria 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, encephalomyopathic form with methylmalonic aciduria, please discuss your symptoms with a qualified healthcare provider.