scholarly journals Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene

2022 ◽  
Author(s):  
Kaustubh Mohite ◽  
Karthik Vijay Nair ◽  
Anilkumar Sapare ◽  
Venkatraman Bhat ◽  
Anju Shukla ◽  
...  
Keyword(s):  
Late Onset ◽  
Biotinidase Deficiency ◽  
Homozygous Variant

Wrodzony niedobór biotynidazy o późnym początku – opis przypadku

2018 ◽  
Vol 22 (2) ◽  
Author(s):  
Milena Lubowicz ◽  
Magdalena Łukasik ◽  
Katarzyna Dylewska ◽  
Andrzej Kurylak
Keyword(s):  
Hearing Loss ◽  
Initial Phase ◽  
Laboratory Tests ◽  
Clinical Symptoms ◽  
Late Onset ◽  
Carrier State ◽  
Biotinidase Deficiency ◽  
Psychomotor Development ◽  
Chromosome 3 ◽  
Biotinidase Activity

Biotinidase deficiency is a genetically conditioned congenital disorder of biotin metabolism. The disease is caused by mutations in the BTD-3p25 gene, located on the short strand of chromosome 3. The BTD gene conditions proper biotinidase synthesis. So far, approximately 150 mutations of this gene have been identified. The incidence proportion is one case per 61 000 births, and the carrier state – one case per 120 births. Biotin (vit. H, B7) is essential in numerous metabolic processes. The initial phase of the disease can be acute, chronic including exacerbations/remissions, progressive, and the symptoms can appear at any age. The diagnosis of patients with late-onset disease is particularly difficult, since the symptoms suggest disorders of different nature, especially neurologic. The diagnosis is based on the analysis of clinical symptoms and laboratory tests, including biotinidase activity. The supplementation of biotin is the treatment of choice. It leads to rapid resolution of symptoms and can protect against permanent consequences of the disease such as optic atrophy, hearing loss or retarded psychomotor development.

A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency

2017 ◽  
Vol 32 (3) ◽  
pp. 675-678 ◽  
Author(s):  
Sanem Yilmaz ◽  
Mine Serin ◽  
Ebru Canda ◽  
Cenk Eraslan ◽  
Hande Tekin ◽  
...  
Keyword(s):  
Neuromyelitis Optica ◽  
Vision Loss ◽  
Late Onset ◽  
Biotinidase Deficiency ◽  
Spectrum Disorder ◽  
Neuromyelitis Optica Spectrum Disorder

scholarly journals Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency

1983 ◽  
Vol 131 (3) ◽  
pp. 273-281 ◽  
Author(s):  
Barry Wolf ◽  
Robert E. Grier ◽  
Richard J. Allen ◽  
Stephen I. Goodman ◽  
Craig L. Kien
Keyword(s):  
Late Onset ◽  
Biotinidase Deficiency ◽  
Multiple Carboxylase Deficiency ◽  
Enzymatic Defect

Late-Onset Anaphylaxis to Omalizumab Reported

2006 ◽  
Vol 37 (6) ◽  
pp. 6
Author(s):  
PATRICE WENDLING
Keyword(s):  
Late Onset

Early-, Late-Onset Psoriasis Called Different Diseases

2011 ◽  
Vol 42 (8) ◽  
pp. 26
Author(s):  
BRUCE JANCIN
Keyword(s):  
Late Onset ◽  
Early Late

Familial Patterns of Risk in Very Late-Onset Alzheimer's Disease

2003 ◽  
Author(s):  
J. M. Silverman ◽  
C. J. Smith ◽  
D. B. Marin ◽  
R. C. Mohs ◽  
C. B. Propper
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Late Onset ◽  
Familial Patterns
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