Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset)

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130 relevant articles (5 outcomes, 5 trials/studies) found for this Disease

Description: The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.

Also Known As:

Multiple Carboxylase Deficiency, Late Onset; Carboxylase Deficiency, Multiple, Late-Onset; Deficiency, Biotinidase; Deficiency, Multiple Carboxylase, Late-Onset; Biotinidase Deficiencies; Deficiencies, Biotinidase; Multiple Carboxylase Deficiency, Late-Onset

Relationship Network

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 421

Inborn Genetic Diseases: 549

Inborn Errors Metabolism: 402

Inborn Errors Amino Acid Metabolism

Multiple Carboxylase Deficiency: 100

Biotinidase Deficiency: 130

Inborn Errors Carbohydrate Metabolism

Multiple Carboxylase Deficiency: 100

Biotinidase Deficiency: 130

Nutritional and Metabolic Diseases

Metabolic Diseases: 1267

Inborn Errors Metabolism: 402

Inborn Errors Amino Acid Metabolism

Multiple Carboxylase Deficiency: 100

Biotinidase Deficiency: 130

Inborn Errors Carbohydrate Metabolism

Multiple Carboxylase Deficiency: 100

Biotinidase Deficiency: 130

Related Diseases

1.	Exanthema (Rash)
2.	Muscle Hypotonia (Hypotonia)
3.	Ataxia (Dyssynergia)
4.	Alopecia (Baldness)
5.	Seizures (Seizure)

Experts

1.	Wolf, Barry: 3 articles (07/2005 - 03/2002)
2.	Gal, A: 1 article (01/2005)
3.	Gokçay, G: 1 article (01/2005)
4.	Lukacs, Z: 1 article (01/2005)
5.	Santer, R: 1 article (01/2005)
6.	Demirkol, M: 1 article (01/2005)
7.	Naylor, Edwin W: 1 article (02/2003)
8.	Banas, Richard A: 1 article (02/2003)
9.	Angeletti, Janine: 1 article (02/2003)
10.	Dobrowolski, Steven F: 1 article (02/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Biotinidase Deficiency:

1.	Biotin (Vitamin H)FDA Link 03/04/1994 - "Biotinidase deficiency is an inherited metabolic disorder of biotin recycling that is characterized by neurological and cutaneous abnormalities, and can be successfully treated with biotin supplementation" 12/01/1997 - "Biotinidase deficiency was confirmed biochemically and she responded well to biotin therapy" 08/01/2008 - "BACKGROUND: Biotinidase deficiency is a metabolic disorder characterized by inability to recycle biotin with resultant delayed myelination" 06/15/2008 - "Biotin was also determined and replacement monitored in the serum of suspected biotinidase deficiency patients" 05/01/2005 - "Biotinidase deficiency is an inherited metabolic disorder characterized by inability to recycle protein-bound biotin" Order ALL the reference details at left...
2.	UniversalIBA 05/01/2005 - "CONCLUSION: An argument is made for universal newborn screening in biotinidase deficiency and improved mechanisms for follow-up of positive screens, because delay in diagnosis results in irreversible morbidity, newborn screening is cost effective, and early therapy prevents the neurologic sequelae." Order ALL the reference details at left...
3.	BiotinidaseIBA 04/01/2001 - "This study characterises the spectrum of biotinidase mutations in 21 patients (17 families) with profound biotinidase deficiency (BD) and 13 unrelated patients with partial BD using a denaturing gradient gel electrophoretic mutation screening and selective sequencing approach" 01/01/1990 - "Seventeen partially biotinidase-deficient patients detected by neonatal screening or family studies were compared with four patients with classical biotinidase deficiency" 05/01/2004 - "Biotinidase deficiency was considered and was confirmed by both urine organic acid analysis and biotinidase activity measurement" 04/01/2003 - "METHODS: Six patients aged from 3 months to 14 years with biotinidase deficiency were confirmed by urinary organic acid analysis with gas chromatography/mass spectrometry (GC/MS) and biotinidase assay on dried blood spots" 02/01/2003 - "Combining biotinidase enzyme analysis with genotypic data also increases the sensitivity of screening for biotinidase deficiency and provides information useful to clinicians earlier than would otherwise be possible." Order ALL the reference details at left...
4.	biocytinIBA 01/25/2002 - "Neuronal biocytin uptake might contribute to the pathogenesis of biotinidase deficiency where biocytin is present in elevated levels." 01/01/1992 - "In contrast to this patient, two age matched children with partial biotinidase deficiency (2.8% and 2.9% of normal), but with a normal Km for biocytin, remained asymptomatic" 10/31/1988 - "Quantitative determination of biocytin in urine of patients with biotinidase deficiency using high-performance liquid chromatography (HPLC)." 05/01/1987 - "It has been suggested that biocytin may be present in serum and urine of patients with inherited biotinidase deficiency" 01/01/1984 - "Detection of biocytin in urine of children with congenital biotinidase deficiency." Order ALL the reference details at left...
5.	Valproic Acid (Valproate, Semisodium)FDA LinkGeneric 10/01/2001 - "PURPOSE: Valproic acid (VPA) is an effective antiepileptic drug (AED), which is associated with dose-related adverse reactions such as skin rash, hair loss (alopecia), etc. Profound as well as partial biotinidase deficiency causes dermatologic manifestations similar these" 09/01/2006 - "In this study we aimed to put forward the biotinidase deficiency considered as a possible cause of alopecia in the rats administered with valproic acid, and the correlation between liver and serum biotinidase enzyme activities (BEA) and transaminases, albumin and serum valproic acid levels" Order ALL the reference details at left...
6.	TransaminasesIBA 09/01/2006 - "In this study we aimed to put forward the biotinidase deficiency considered as a possible cause of alopecia in the rats administered with valproic acid, and the correlation between liver and serum biotinidase enzyme activities (BEA) and transaminases, albumin and serum valproic acid levels" Order ALL the reference details at left...
7.	LigasesIBA 10/01/1994 - "The first is holocarboxylase synthetase (HCS) deficiency and the second biotinidase deficiency" 01/01/1991 - "There are two types of multiple carboxylase deficiency, the neonatal form with holocarboxylase synthetase defect and the late-onset form with biotinidase deficiency" 10/01/1998 - "Some of these women might be carriers of an inborn error of biotin metabolism (either biotinidase deficiency or holocarboxylase synthetase activity)" 01/01/1990 - "Holocarboxylase synthetase (HS) and biotinidase deficiencies have been identified as causes of biotin-responsive multiple carboxylase deficiency" 01/01/1989 - "Biotin-related multiple carboxylase synthetase deficiency can be produced by either of two enzyme defects--holocarboxylase synthetase deficiency or biotinidase deficiency" Order ALL the reference details at left...
8.	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 09/01/1998 - "There was reasonable evidence to support inclusion in extended neonatal screening of four other IEMs: biotinidase deficiency, congenital adrenal hyperplasia (CAH), medium-chain acyl CoA dehydrogenase (MCAD) deficiency and glutaric aciduria type 1 (GA1)" 08/01/2007 - "Twelve countries screen for congenital adrenal hyperplasia (CAH), 6 for cystic fibrosis (CF) and 7 for galactosaemia (GAL), 6 for biotinidase deficiency (BD) and 4 for medium-chain acyl-CoA dehydrogenase deficiency (MCAD)" 05/01/2006 - "OBJECTIVE: To determine the cost-effectiveness of each component test of a multitest newborn screening program, including screening for phenylketonuria, congenital adrenal hyperplasia, congenital hypothyroidism, biotinidase deficiency, maple syrup urine disease, galactosemia, homocystinuria, and medium-chain acyl-CoA dehydrogenase deficiency" 09/01/2006 - "The following disorders are discussed in this revision of the newborn screening fact sheets: biotinidase deficiency, congenital adrenal hyperplasia, congenital hearing loss, congenital hypothyroidism, cystic fibrosis, galactosemia, homocystinuria, maple syrup urine disease, medium-chain acyl-coenzyme A dehydrogenase deficiency, phenylketonuria, sickle cell disease and other hemoglobinopathies, and tyrosinemia" 09/01/2006 - "The following disorders are reviewed in the newborn screening fact sheets (which are available at www.pediatrics.org/cgi/content/full/118/3/e934): biotinidase deficiency, congenital adrenal hyperplasia, congenital hearing loss, congenital hypothyroidism, cystic fibrosis, galactosemia,homocystinuria, maple syrup urine disease, medium-chain acyl-coenzyme A dehydrogenase deficiency, phenylketonuria, sickle cell disease and other hemoglobinopathies,and tyrosinemia." Order ALL the reference details at left...
9.	VitaminsIBA 01/01/1985 - "Biotinidase deficiency: a novel vitamin recycling defect." 04/01/2005 - "Biotinidase deficiency is a defect in the recycling of the vitamin biotin" 12/01/1997 - "Biotinidase deficiency is an autosomal recessively inherited disorder that results in the inability to recycle the vitamin biotin" 04/01/1997 - "Biotinidase deficiency is an autosomal recessively inherited disorder in the recycling of the vitamin biotin" 07/01/2005 - "Renewed interest in biotinidase, the enzyme responsible for recycling the vitamin biotin, initially came from the discovery of biotinidase deficiency in 1982" Order ALL the reference details at left...
10.	DNA (Deoxyribonucleic Acid)IBA 02/01/2003 - "Employing DNA extracted from the original dried blood specimens from newborns identified through prospective newborn screening as presumptive positive for biotinidase deficiency, the specimens were analyzed for the presence of the five common mutations" 08/01/2002 - "Mutation analysis performed on DNA from 6 Italian patients with partial biotinidase deficiency ascertained by newborn screening allowed the identification of two new mutations, c1211C > T (T404I) and a single base deletion c594delC" 03/01/2000 - "Mutation analysis was performed on DNA from 31 Turkish children with profound biotinidase deficiency who were symptomatic or ascertained by newborn screening" 03/01/2004 - "Mutation analysis performed on DNA from 21 babies with low serum biotinidase activity confirmed that 3 had profound biotinidase deficiency (less than 10% of mean normal sera biotinidase activity), 10 had partial biotinidase deficiency (10 to 30% of mean normal serum activity), 1 was homozygous for partial biotinidase deficiency, 4 were heterozygous for either profound or partial deficiency, and 3 were normal" Order ALL the reference details at left...

Therapies and Procedures

1.	Erythrocyte Transfusion 02/01/2000 - "Erythrocyte transfusion can impair detection of sickle-cell disease, galactosemia, or biotinidase deficiency with newborn screening" Order ALL the reference details at left...
2.	Aftercare (After-Treatment) 01/01/1993 - "Cerebral metabolic change after treatment in biotinidase deficiency." Order ALL the reference details at left...

Best Treatments:
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