NAD(P)HX dehydratase deficiency
NAD(P)HX dehydratase deficiency is a medical condition that may be associated with various symptoms and signs.
Also known as: PEBEL2.
Category: General
Symptoms associated with NAD(P)HX dehydratase deficiency
The following symptoms have been associated with NAD(P)HX dehydratase deficiency in medical literature. Not everyone experiences the same symptoms.
Bilateral sensorineural hearing impairment
A form of sensorineural hearing impairment that affects both ears....
Cerebral edema
Abnormal accumulation of fluid in the brain....
Diarrhea
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day....
Episodic vomiting
Paroxysmal, recurrent episodes of vomiting....
Recurrent fever
Periodic (episodic or recurrent) bouts of fever....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Skin rash
A red eruption of the skin....
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
Tests used to investigate NAD(P)HX dehydratase deficiency
Healthcare providers may order these tests when evaluating NAD(P)HX dehydratase deficiency. 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 NAD(P)HX dehydratase deficiency, which is why a clinical evaluation is important.
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Frequently Asked Questions
What is NAD(P)HX dehydratase deficiency?
NAD(P)HX dehydratase deficiency is a health condition described in medical literature. NAD(P)HX dehydratase deficiency is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of NAD(P)HX dehydratase deficiency?
NAD(P)HX dehydratase deficiency is associated with 8 symptoms in the medical literature we index, including Bilateral sensorineural hearing impairment, Cerebral edema, Diarrhea, Episodic vomiting, Recurrent fever, Seizure. Symptoms vary widely between individuals.
How is NAD(P)HX dehydratase deficiency diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with NAD(P)HX dehydratase deficiency 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 NAD(P)HX dehydratase deficiency, please discuss your symptoms with a qualified healthcare provider.