peroxisome biogenesis disorder 5A (Zellweger)
peroxisome biogenesis disorder 5A (Zellweger) is a medical condition that may be associated with various symptoms and signs.
Also known as: peroxisome biogenesis disorder 5A (Zellweger), PBD5A.
Category: General
Symptoms associated with peroxisome biogenesis disorder 5A (Zellweger)
The following symptoms have been associated with peroxisome biogenesis disorder 5A (Zellweger) in medical literature. Not everyone experiences the same symptoms.
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Generalized-onset seizure
A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilat...
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...
Palpebral edema
Edema in the region of the eyelids....
Poor suck
An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed....
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....
Tests used to investigate peroxisome biogenesis disorder 5A (Zellweger)
Healthcare providers may order these tests when evaluating peroxisome biogenesis disorder 5A (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 5A (Zellweger), which is why a clinical evaluation is important.
Netherton syndrome
Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a dis...
developmental delay, impaired speech, and behavioral abnormalities
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mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...
mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by ...
neurodevelopmental disorder with parkinsonism or other movement abnormalities
neurodevelopmental disorder with parkinsonism or other movement abnormalities is a medical condition that may ...
peroxisome biogenesis disorder 1A (Zellweger)
peroxisome biogenesis disorder 1A (Zellweger) is a medical condition that may be associated with various sympt...
Frequently Asked Questions
What is peroxisome biogenesis disorder 5A (Zellweger)?
peroxisome biogenesis disorder 5A (Zellweger) is a health condition described in medical literature. peroxisome biogenesis disorder 5A (Zellweger) is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of peroxisome biogenesis disorder 5A (Zellweger)?
peroxisome biogenesis disorder 5A (Zellweger) is associated with 8 symptoms in the medical literature we index, including Failure to thrive, Generalized-onset seizure, Hearing impairment, Jaundice, Palpebral edema, Poor suck. Symptoms vary widely between individuals.
How is peroxisome biogenesis disorder 5A (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 5A (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 5A (Zellweger), please discuss your symptoms with a qualified healthcare provider.