ArticleMolecular genetics and metabolism2011
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Article in Molecular genetics and metabolism, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 23 citations in OpenAlex.
- Liver-originated selective autophagy of BTD by alectinib underlies concurrent hepatotoxicity and dermatotoxicity.Autophagy · 2026Article
- Review
- Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening.International journal of environmental research and public health · 2021Article
- Metabolic etiologies in West syndrome.Epilepsia open · 2018Review
- Developmental window of sensorineural deafness in biotinidase-deficient mice.Journal of inherited metabolic disease · 2017Article
- Differential gene expression during early development in brains of wildtype and biotinidase-deficient mice.Molecular genetics and metabolism reports · 2016Article
- Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.European journal of pediatrics · 2015Article
- The Biotinidase Gene Variants Registry: A Paradigm Public Database.G3 (Bethesda, Md.) · 2013Article
- Conditional knockout of the Slc5a6 gene in mouse intestine impairs biotin absorption.American journal of physiology. Gastrointestinal and liver physiology · 2013Article
- Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration.Neurobiology of disease · 2012Article
- The molecular basis of cognitive deficits in pervasive developmental disorders.Learning & memory (Cold Spring Harbor, N.Y.) · 2012Review
- Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients.Journal of inherited metabolic disease · 2012Article
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 1 country.
Funding
Abstract
Biotinidase deficiency is the primary enzymatic defect in biotin-responsive, late-onset multiple carboxylase deficiency. Untreated children with profound biotinidase deficiency usually exhibit neurological symptoms including lethargy, hypotonia, seizures, developmental delay, sensorineural hearing loss and optic atrophy; and cutaneous symptoms including skin rash, conjunctivitis and alopecia. Although the clinical features of the disorder markedly improve or are prevented with biotin supplementation, some symptoms, once they occur, such as developmental delay, hearing loss and optic atrophy, are usually irreversible. To prevent development of symptoms, the disorder is screened for in the newborn period in essentially all states and in many countries. In order to better understand many aspects of the pathophysiology of the disorder, we have developed a transgenic biotinidase-deficient mouse. The mouse has a null mutation that results in no detectable serum biotinidase activity or cross-reacting material to antibody prepared against biotinidase. When fed a biotin-deficient diet these mice develop neurological and cutaneous symptoms, carboxylase deficiency, mild hyperammonemia, and exhibit increased urinary excretion of 3-hydroxyisovaleric acid and biotin and biotin metabolites. The clinical features are reversed with biotin supplementation. This biotinidase-deficient animal can be used to study systematically many aspects of the disorder and the role of biotinidase, biotin and biocytin in normal and in enzyme-deficient states.
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Registered trials
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