mitochondrial complex I deficiency, nuclear type 1
mitochondrial complex I deficiency, nuclear type 1 is a medical condition that may be associated with various symptoms and signs.
Also known as: mitochondrial complex 1 deficiency, mitochondrial complex I deficiency, MC1DN1, NADH-coenzyme Q reductase deficiency, NADH:Q(1) oxidoreductase deficiency, mitochondrial NADH dehydrogenase component of Complex I, deficiency of, mitochondrial complex I deficiency, nuclear type 1.
Category: General
Symptoms associated with mitochondrial complex I deficiency, nuclear type 1
The following symptoms have been associated with mitochondrial complex I deficiency, nuclear type 1 in medical literature. Not everyone experiences the same symptoms.
Bilateral tonic-clonic seizure
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to...
Blindness
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. ...
Cerebral edema
Abnormal accumulation of fluid in the brain....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Muscle weakness
Reduced strength of muscles....
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve....
Tongue fasciculations
Fasciculations or fibrillation affecting the tongue muscle....
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 complex I deficiency, nuclear type 1
Healthcare providers may order these tests when evaluating mitochondrial complex I deficiency, nuclear type 1. 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 complex I deficiency, nuclear type 1, which is why a clinical evaluation is important.
Infantile Krabbe disease
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Krabbe disease
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Lujo hemorrhagic fever
Lujo hemorrhagic fever is a medical condition that may be associated with various symptoms and signs....
MELAS
MELAS is a medical condition that may be associated with various symptoms and signs....
Morimoto-Ryu-Malicdan neuromuscular syndrome
Morimoto-Ryu-Malicdan neuromuscular syndrome is a medical condition that may be associated with various sympto...
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 complex I deficiency, nuclear type 1?
mitochondrial complex I deficiency, nuclear type 1 is a health condition described in medical literature. mitochondrial complex I deficiency, nuclear type 1 is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of mitochondrial complex I deficiency, nuclear type 1?
mitochondrial complex I deficiency, nuclear type 1 is associated with 8 symptoms in the medical literature we index, including Bilateral tonic-clonic seizure, Blindness, Cerebral edema, Failure to thrive, Muscle weakness, Sensorineural hearing impairment. Symptoms vary widely between individuals.
How is mitochondrial complex I deficiency, nuclear type 1 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with mitochondrial complex I deficiency, nuclear type 1 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 complex I deficiency, nuclear type 1, please discuss your symptoms with a qualified healthcare provider.