Biotinidase deficiency
Biotinidase deficiency is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with Biotinidase deficiency
The following symptoms have been associated with Biotinidase deficiency in medical literature. Not everyone experiences the same symptoms.
Alopecia
A noncongenital process of hair loss, which may progress to partial or complete baldness....
Bilateral tonic-clonic seizure
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to...
Focal motor seizure
A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation....
Generalized myoclonic seizure
A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, bri...
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Limb muscle weakness
Reduced strength and weakness of the muscles of the arms and legs....
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....
Skin rash
A red eruption of the skin....
Tests used to investigate Biotinidase deficiency
Healthcare providers may order these tests when evaluating Biotinidase 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 Biotinidase deficiency, which is why a clinical evaluation is important.
Early infantile developmental and epileptic encephalopathy
Early infantile developmental and epileptic encephalopathy is a medical condition that may be associated with ...
Mixed connective tissue disease
Mixed connective tissue disease 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...
Netherton syndrome
Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a dis...
Stolerman neurodevelopmental syndrome
Stolerman neurodevelopmental syndrome is a medical condition that may be associated with various symptoms and ...
multiple congenital anomalies-hypotonia-seizures syndrome 2
Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the diseas...
Frequently Asked Questions
What is Biotinidase deficiency?
Biotinidase deficiency is a health condition described in medical literature. Biotinidase deficiency is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Biotinidase deficiency?
Biotinidase deficiency is associated with 9 symptoms in the medical literature we index, including Alopecia, Bilateral tonic-clonic seizure, Focal motor seizure, Generalized myoclonic seizure, Hearing impairment, Limb muscle weakness. Symptoms vary widely between individuals.
How is Biotinidase deficiency diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Biotinidase 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 Biotinidase deficiency, please discuss your symptoms with a qualified healthcare provider.