Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset)

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; BTD Deficiency; Deficiency, Biotinidase; Deficiency, Multiple Carboxylase, Late-Onset; Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency; Late-Onset Multiple Carboxylase Deficiency; BTD Deficiencies; Biotinidase Deficiencies; Deficiencies, BTD; Deficiencies, Biotinidase; Deficiency, BTD; Late Onset Biotin Responsive Multiple Carboxylase Deficiency; Late Onset Multiple Carboxylase Deficiency; Multiple Carboxylase Deficiency, Late-Onset

Networked: 253 relevant articles (14 outcomes, 10 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

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

Experts

1.	Wolf, Barry: 29 articles (03/2021 - 03/2002)
2.	Pindolia, Kirit: 10 articles (09/2017 - 09/2007)
3.	Wolf, B: 7 articles (07/2014 - 01/2000)
4.	Coşkun, Turgay: 3 articles (01/2021 - 05/2004)
5.	Canda, Ebru: 3 articles (01/2020 - 01/2017)
6.	Mao, Rong: 3 articles (01/2020 - 01/2013)
7.	Procter, Melinda: 3 articles (01/2020 - 01/2013)
8.	Baumgartner, E Regula: 3 articles (07/2004 - 01/2002)
9.	Suormala, Terttu: 3 articles (12/2003 - 01/2002)
10.	Swango, K L: 3 articles (12/2001 - 02/2000)

Drugs and Biologics

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

1.	Biotin (Vitamin H)FDA Link 01/01/2022 - "There are two forms, partial and profound BTD deficiency, which both can be successfully treated with pharmacological doses of biotin, justifying the inclusion of this disorder in the newborn screening in numerous countries. " 01/01/2017 - "In addition, mothers with profound biotinidase deficiency who were treated with biotin had pregnancies with good outcomes. " 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. " 10/01/2016 - "He was managed on symptomatically initially, later a diagnosis of Biotinidase deficiency was made, he responded well on supplemental biotin. " 07/01/2003 - "A follow-up of the case indicated the efficacy, of biotin supplementation in biotinidase deficiency."
2.	EnzymesIBA 01/01/2018 - "These results will be helpful in establishing the definitive diagnosis of BTD deficiency at the gene level, offering appropriate genetic counseling, and providing clues to structure/function relationships of the enzyme." 06/16/2023 - "The child was then diagnosed with profound BTD deficiency based on the above findings and low BTD enzyme activity. " 03/01/2023 - "BTD deficiency is of two types based on the amount of BTD Enzyme present in the serum. " 01/01/2022 - "Moreover, genetic testing of BTD deficient individuals can allow prediction of the severity of BTD deficiency and of the likelihood of BTD enzyme activity recovery with age." 01/01/2022 - "We investigated the BTD deficiency cohort (N = 87) in our metabolic center, as it was detected upon newborn screening since 2005, and aimed to better understand the long-term course of BTD enzyme activity and how it may relate to the patients' genetic background. "
3.	VitaminsIBA 03/01/2023 - "Biotinidase deficiency (BD) is a rare autosomal recessive, vitamin-responsive inborn error of metabolism associated with a wide spectrum of dermatological, neurological, auditory, and metabolic abnormalities. " 01/01/1985 - "Biotinidase deficiency: a novel vitamin recycling defect." 05/01/2014 - "Biotinidase deficiency is an autosomal recessively inherited metabolic disorder that can be easily and effectively treated with pharmacological doses of the vitamin, biotin. " 05/07/2020 - "Biotinidase deficiency (BTD) is a rare yet treatable metabolic autosomal recessive (AR) disorder in which the body is unable to recycle the vitamin biotin. " 01/01/2020 - "The treatment for biotinidase deficiency, a condition that occurs in approximately 1 : 110,000 people, is with biotin (vitamin B7) supplementation. "
4.	Biomarkers (Surrogate Marker)IBA 03/01/2023 - "The molecular-based biomarker screening is necessary for the disease during pregnancy, as it could be helpful for the early identification of BTD deficiency, providing a better treatment strategy. " 01/01/2018 - "Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers." 01/01/2018 - "All States screen for biotinidase deficiency and galactosemia, and X-linked adrenoleukodystrophy (X-ALD) has recently been added to the Recommended Uniform Screening Panel (RUSP).We sought to consolidate these tests by combining them into a single multiplex tandem mass spectrometry assay as well as to improve the current protocol for newborn screening of galactosemia.A 3 mm punch of a dried blood spot (DBS) was extracted with organic solvent for analysis of the C26:0-lysophosphatidylcholine biomarker for X-ALD.An"
5.	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. " 01/01/2022 - "Reference interval for biotinidase activity, based on 2.5th and 97.5th percentiles, was from 3.0 to 11.0 nmol/ml/min. Screening of newborns for biotinidase deficiency is crucial to prevent irreversible neurological damage." 01/01/2022 - "Establishing biotinidase reference interval: A foundation stone for newborn screening of biotinidase deficiency in Pakistan." 07/01/2021 - "To identify the biotinidase (BTD) gene mutations in patients with biotinidase deficiency in our region; and to determine the phenotype-genotype correlations in the presence of clinical findings. "
6.	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."
7.	AcidsIBA 09/26/2023 - "This study has validated the BTD variants as the underlying cause of biotinidase deficiency in which molecular testing of BTD is supported by urinary organic acid analysis and clinical diagnosis. " 07/01/2019 - "Biochemically, the combination of elevated C5-OH-carnitine and increased excretion of 3-OH-isovaleric acid seemed compatible with biotinidase deficiency. " 12/01/1993 - "Chromatography of organic acids showed several abnormal peaks suggesting biotinidase deficiency. " 01/01/1993 - "Cerebrospinal fluid organic acids in biotinidase deficiency." 01/01/1984 - "Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency."
8.	Valproic Acid (Depakote)FDA LinkGeneric 09/01/2009 - "Some of the side effects that develop during long-term valproic acid (VPA) treatment are similar to symptoms of zinc and partial biotinidase deficiencies. " 10/01/2001 - "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. "
9.	Histones (Histone)IBA 11/01/2006 - "HCS and BTD deficiency did not affect cold tolerance, suggesting stress-specific effects of chromatin remodeling by histone biotinylation. " 11/01/2006 - "To test whether HCS and BTD deficiency alters histone biotinylation and to characterize phenotypes associated with HCS and BTD deficiency, HCS- and BTD-deficient flies were generated by RNA interference (RNAi). " 11/01/2006 - "To our knowledge, this is the first study to provide evidence that HCS-dependent histone biotinylation affects gene function and phenotype, suggesting that the complex phenotypes of HCS- and BTD-deficiency disorders may reflect chromatin structure changes." 10/01/1995 - "Biotinylation of histones by human serum biotinidase: assessment of biotinyl-transferase activity in sera from normal individuals and children with biotinidase deficiency."
10.	StreptavidinIBA 01/01/2022 - "Enrolled in the study were 50 children diagnosed with biotinidase deficiency (BTD) undergoing treatment with biotin (5-20 mg/day) who were subjected to a series of analyses involving 25-OHD (Roche Diagnostics assays, Beckman Coulter assays, HPLC, LC/MS-MS), TSH, PTH (Roche Diagnostics assays, Beckman Coulter assays) and biotin (LC/MS-MS), before and after biotin neutralization with Streptavidin-coated magnetic particles (SMP). "

Therapies and Procedures

1.	Therapeutics 04/01/2003 - "To investigate the clinical and neurodevelopmental profiles of patients with biotinidase deficiency and to determine the efficacy of current therapy with respect to outcome. " 01/01/2022 - "Based on our results, we recommend to retest all patients with partial BTD deficiency at the age of 5 years, as this may result in an impact on therapy. " 01/01/2020 - "We report a young adult diagnosed with profound biotinidase deficiency by newborn screening who was asymptomatic while on therapy. " 04/01/2011 - "The authors present a rare case of this type of epileptic encephalopathy in which a treatable metabolic condition such as biotinidase deficiency was suspected and diagnosed, and early institution of appropriate therapy led to a good clinical outcome." 09/01/2000 - "The case is a rare example of reversible hearing loss caused by to biotinidase deficiency and highlights the need for immediate replacement therapy once the diagnosis is established."
2.	Secondary Prevention 05/01/2005 - "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." 12/01/2017 - "These excellent outcomes confirm that newborn screening for biotinidase deficiency is a very effective secondary prevention program."
3.	Erythrocyte Transfusion 02/01/2000 - "Erythrocyte transfusion can impair detection of sickle-cell disease, galactosemia, or biotinidase deficiency with newborn screening. "
4.	Anesthesia 01/01/2014 - "Management of anesthesia in biotinidase deficiency."
5.	Aftercare (After-Treatment) 01/01/1993 - "Cerebral metabolic change after treatment in biotinidase deficiency."