Alpha-N-acetylgalactosaminidase deficiency
Alpha-N-acetylgalactosaminidase deficiency is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with Alpha-N-acetylgalactosaminidase deficiency
The following symptoms have been associated with Alpha-N-acetylgalactosaminidase deficiency in medical literature. Not everyone experiences the same symptoms.
Blindness
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. ...
Constipation
Infrequent or difficult evacuation of feces....
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....
Lymphedema
Localized fluid retention and tissue swelling caused by a compromised lymphatic system....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Vertigo
An abnormal sensation of spinning while the body is actually stationary....
Tests used to investigate Alpha-N-acetylgalactosaminidase deficiency
Healthcare providers may order these tests when evaluating Alpha-N-acetylgalactosaminidase 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 Alpha-N-acetylgalactosaminidase deficiency, which is why a clinical evaluation is important.
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ReNU syndrome
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Stolerman neurodevelopmental syndrome
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mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
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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 Alpha-N-acetylgalactosaminidase deficiency?
Alpha-N-acetylgalactosaminidase deficiency is a health condition described in medical literature. Alpha-N-acetylgalactosaminidase deficiency is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Alpha-N-acetylgalactosaminidase deficiency?
Alpha-N-acetylgalactosaminidase deficiency is associated with 7 symptoms in the medical literature we index, including Blindness, Constipation, Gastroesophageal reflux, Hearing impairment, Lymphedema, Seizure. Symptoms vary widely between individuals.
How is Alpha-N-acetylgalactosaminidase deficiency diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Alpha-N-acetylgalactosaminidase 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 Alpha-N-acetylgalactosaminidase deficiency, please discuss your symptoms with a qualified healthcare provider.