peroxisome biogenesis disorder 1A (Zellweger)
peroxisome biogenesis disorder 1A (Zellweger) is a medical condition that may be associated with various symptoms and signs.
Also known as: peroxisome biogenesis disorder 1A (Zellweger), PBD1A.
Category: General
Symptoms associated with peroxisome biogenesis disorder 1A (Zellweger)
The following symptoms have been associated with peroxisome biogenesis disorder 1A (Zellweger) in medical literature. Not everyone experiences the same symptoms.
Dysphagia
Difficulty in swallowing....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Focal clonic seizure
A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is r...
Focal impaired awareness seizure
Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset s...
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...
Poor suck
An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed....
Prolonged neonatal jaundice
Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of incre...
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....
Tongue fasciculations
Fasciculations or fibrillation affecting the tongue muscle....
Tests used to investigate peroxisome biogenesis disorder 1A (Zellweger)
Healthcare providers may order these tests when evaluating peroxisome biogenesis disorder 1A (Zellweger). 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 peroxisome biogenesis disorder 1A (Zellweger), which is why a clinical evaluation is important.
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multiple mitochondrial dysfunctions syndrome 9b
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Frequently Asked Questions
What is peroxisome biogenesis disorder 1A (Zellweger)?
peroxisome biogenesis disorder 1A (Zellweger) is a health condition described in medical literature. peroxisome biogenesis disorder 1A (Zellweger) is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of peroxisome biogenesis disorder 1A (Zellweger)?
peroxisome biogenesis disorder 1A (Zellweger) is associated with 11 symptoms in the medical literature we index, including Dysphagia, Failure to thrive, Focal clonic seizure, Focal impaired awareness seizure, Hearing impairment, Jaundice. Symptoms vary widely between individuals.
How is peroxisome biogenesis disorder 1A (Zellweger) diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with peroxisome biogenesis disorder 1A (Zellweger) 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 peroxisome biogenesis disorder 1A (Zellweger), please discuss your symptoms with a qualified healthcare provider.