mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated with various symptoms and signs.
Also known as: Navajo neurohepatopathy, Navajo neuropathy, mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, MTDPS6, NN, mitochondrial DNA depletion syndrome 6.
Category: General
Symptoms associated with mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
The following symptoms have been associated with mitochondrial DNA depletion syndrome 6 (hepatocerebral type) in medical literature. Not everyone experiences the same symptoms.
Abdominal distention
Distention of the abdomen....
Ankle weakness
Reduced strength of the muscles that lift or otherwise move the foot at the ankle....
Constipation
Infrequent or difficult evacuation of feces....
Dark urine
An abnormal dark color of the urine....
Depression
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these m...
Diarrhea
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day....
Distal muscle weakness
Reduced strength of the musculature of the distal extremities....
Dysphagia
Difficulty in swallowing....
Episodic vomiting
Paroxysmal, recurrent episodes of vomiting....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Foot dorsiflexor weakness
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards...
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Jaundice
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentra...
Lower limb muscle weakness
Weakness of the muscles of the legs....
Memory impairment
An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and inc...
Muscle weakness
Reduced strength of muscles....
Myalgia
Pain in muscle....
Ophthalmoparesis
Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement....
Poor suck
An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed....
Progressive muscle weakness
Information about Progressive muscle weakness....
Progressive proximal muscle weakness
Lack of strength of the proximal muscles that becomes progressively more severe....
Prolonged neonatal jaundice
Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of incre...
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 ...
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
Weakness of the intrinsic hand muscles
Information about Weakness of the intrinsic hand muscles....
Tests used to investigate mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Healthcare providers may order these tests when evaluating mitochondrial DNA depletion syndrome 6 (hepatocerebral type). 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 6 (hepatocerebral type), which is why a clinical evaluation is important.
Acute intermittent porphyria
Acute intermittent porphyria 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...
Idiopathic hypereosinophilic syndrome
Idiopathic hypereosinophilic syndrome is a medical condition that may be associated with various symptoms and ...
Stolerman neurodevelopmental syndrome
Stolerman neurodevelopmental syndrome is a medical condition that may be associated with various symptoms and ...
developmental delay, impaired speech, and behavioral abnormalities
developmental delay, impaired speech, and behavioral abnormalities is a medical condition that may be associat...
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 6 (hepatocerebral type)?
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a health condition described in medical literature. mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of mitochondrial DNA depletion syndrome 6 (hepatocerebral type)?
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is associated with 27 symptoms in the medical literature we index, including Abdominal distention, Ankle weakness, Constipation, Dark urine, Depression, Diarrhea. Symptoms vary widely between individuals.
How is mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 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 6 (hepatocerebral type) 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 6 (hepatocerebral type), please discuss your symptoms with a qualified healthcare provider.