biotinidase deficiency
A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.
Also known as: BTD deficiency, biotinidase deficiency, juvenile-onset multiple carboxylase deficiency, late-onset multiple carboxylase deficiency, biotin deficiency, late-onset biotin-responsive multiple carboxylase deficiency.
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....
Diarrhea
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day....
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....
Visual loss
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term re...
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
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.
African trypanosomiasis
African trypanosomiasis is a medical condition that may be associated with various symptoms and signs....
MELAS
MELAS is a medical condition that may be associated with various symptoms and signs....
Marburg hemorrhagic fever
Marburg hemorrhagic fever is a medical condition that may be associated with various symptoms and signs....
Netherton syndrome
Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a dis...
Pediatric systemic lupus erythematosus
Pediatric systemic lupus erythematosus is a medical condition that may be associated with various symptoms and...
Stolerman neurodevelopmental syndrome
Stolerman neurodevelopmental syndrome is a medical condition that may be associated with various symptoms and ...
Frequently Asked Questions
What is biotinidase deficiency?
biotinidase deficiency is a health condition described in medical literature. A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.
What are the symptoms of biotinidase deficiency?
biotinidase deficiency is associated with 7 symptoms in the medical literature we index, including Alopecia, Diarrhea, Seizure, Sensorineural hearing impairment, Skin rash, Visual loss. 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.