scholarly journals Impaired Biotinidase Activity Disrupts Holocarboxylase Synthetase Expression in Late Onset Multiple Carboxylase Deficiency

2008 ◽  
Vol 283 (49) ◽  
pp. 34150-34158 ◽  
Author(s):  
Anylu Pérez-Monjaras ◽  
Rafael Cervantes-Roldán ◽  
Iván Meneses-Morales ◽  
Roy A. Gravel ◽  
Sandra Reyes-Carmona ◽  
...  
Keyword(s):  
Late Onset ◽  
Holocarboxylase Synthetase ◽  
Multiple Carboxylase Deficiency ◽  
Biotinidase Activity

scholarly journals Paradoxical Regulation of Biotin Utilization in Brain and Liver and Implications for Inherited Multiple Carboxylase Deficiency

2004 ◽  
Vol 279 (50) ◽  
pp. 52312-52318 ◽  
Author(s):  
Diana Pacheco-Alvarez ◽  
R. Sergio Solórzano-Vargas ◽  
Roy A. Gravel ◽  
Rafael Cervantes-Roldán ◽  
Antonio Velázquez ◽  
...  
Keyword(s):  
High Dose ◽  
Mrna Levels ◽  
Holocarboxylase Synthetase ◽  
Biotin Deficiency ◽  
Multiple Carboxylase Deficiency ◽  
Regulatory Impact ◽  
Normal Metabolism ◽  
Liver And Kidney ◽  
Essential Function ◽  
The Brain

Holocarboxylase synthetase (HCS) catalyzes the biotinylation of five carboxylases in human cells, and mutations of HCS cause multiple carboxylase deficiency (MCD). Although HCS also participates in the regulation of its own mRNA levels, the relevance of this mechanism to normal metabolism or to the MCD phenotype is not known. In this study, we show that mRNA levels of enzymes involved in biotin utilization, including HCS, are down-regulated during biotin deficiency in liver while remaining constitutively expressed in brain. We propose that this mechanism of regulation is aimed at sparing the essential function of biotin in the brain at the expense of organs such as liver and kidney during biotin deprivation. In MCD, it is possible that some of the manifestations of the disease may be associated with down-regulation of biotin utilization in liver because of the impaired activity of HCS and that high dose biotin therapy may in part be important to overcoming the adverse regulatory impact in such organs.

Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency

1985 ◽  
Vol 8 (S2) ◽  
pp. 105-106 ◽  
Author(s):  
C. Erasmus ◽  
L. J. Mienie ◽  
C. J. Reinecke ◽  
S. K. Wadman
Keyword(s):  
Late Onset ◽  
Organic Aciduria ◽  
Multiple Carboxylase Deficiency

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.

DEFICIENT LIVER BIOTINIDASE ACTIVITY IN MULTIPLE CARBOXYLASE DEFICIENCY

The Lancet ◽  
1983 ◽  
Vol 322 (8346) ◽  
pp. 397 ◽  
Author(s):  
M. Gaudry ◽  
A. Munnich ◽  
H. Ogier ◽  
C. Marsac ◽  
A. Marquet ◽  
...  
Keyword(s):  
Multiple Carboxylase Deficiency ◽  
Biotinidase Activity
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