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.
An enzyme which catalyzes the release of BIOTIN from biocytin. In human, defects in the enzyme are the cause of the organic acidemia MULTIPLE CARBOXYLASE DEFICIENCY or BIOTINIDASE DEFICIENCY.
A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY.
Amidohydrolases are enzymes that catalyze the hydrolysis of amides and related compounds, playing a crucial role in various biological processes including the breakdown and synthesis of bioactive molecules.
A water-soluble, enzyme co-factor present in minute amounts in every living cell. It occurs mainly bound to proteins or polypeptides and is abundant in liver, kidney, pancreas, yeast, and milk.
A chronic inflammatory disease of the skin with unknown etiology. It is characterized by moderate ERYTHEMA, dry, moist, or greasy (SEBACEOUS GLAND) scaling and yellow crusted patches on various areas, especially the scalp, that exfoliate as dandruff. Seborrheic dermatitis is common in children and adolescents with HIV INFECTIONS.
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.

Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations. (1/10)

Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneous symptoms. Fortunately, it can be treated and the symptoms prevented by oral administration of the vitamin biotin. Using dried blood-soaked filter paper cards, biotinidase activity was determined in the sera of 225,136 newborns in Brazil. 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. Variability in serum enzyme activities and discrepancies with mutation analyses were probably due to inappropriate handling and storage of samples sent to the laboratory. Obtaining an appropriate control serum at the same time as that of the suspected child will undoubtedly decrease the false-positive rate (0.09%). Mutation analysis can be used to confirm the genotype of these children. The estimated incidence of biotinidase deficiency in Brazil is about 1 in 9,000, higher than in most other countries. Screening and treatment of biotinidase deficiency are effective and warranted. These results strongly suggest that biotinidase deficiency should be included in the newborn mass screening program of Brazil.  (+info)

Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency. (2/10)


Biotinidase deficiency with hypertonia as unusual feature. (3/10)

We report 3 cases of biotinidase deficiency presenting in early infancy with neurological and cutaneous manifestations. All of them had hypertonia (spasticity). Response to oral biotin was excellent. One of the cases showed 7D3I biotidase deficient mutation.  (+info)

Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder. (4/10)


Peculiar neuroimaging and electrophysiological findings in a patient with biotinidase deficiency. (5/10)


Evaluation of the probabilistic distribution of dietary biotin intake in Japan using Monte Carlo simulation. (6/10)

Biotin is a widely distributed water soluble vitamin. Adequate intake of biotin was set at 50 microg/d in Japan 2010. Recently, the importance of the application of probabilistic techniques to estimate the share of the population at risk of deficient and excessive nutrient intake has been increasingly emphasized for assessing nutrient adequacy. Monte Carlo simulation, a computer-based method of analysis that uses statistical sampling techniques yielding a probabilistic approximation to the solution of a mathematical model, has been used to estimate the probabilistic distribution of the dietary intake of food chemicals. For this study, we used two preliminary models to estimate the dietary biotin intake with food consumption data based on the National Health and Nutrition Survey in Japan. One is evaluated by biotin concentration data from the total diet study; the other is a dataset of biotin concentration in individual foods. After removing outliers from the individual foods dataset, probability density distributions from two models showed analogous mean, median, 5th percentile, and 95th percentile values. The daily biotin intakes from these probabilistic methods showed that more than 80% of the Japanese population had higher than the adequate intake of biotin. However, the contribution of each food group to the total daily biotin intake was somewhat different. Improvement of these methods necessitates the collection of more actual data associated with sample compositional variability and evaluation of uncertainty associated with the food group classification of biotin.  (+info)

Measurement of 3-hydroxyisovaleric acid in urine from marginally biotin-deficient humans by UPLC-MS/MS. (7/10)


Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration. (8/10)


Biotinidase deficiency is a genetic disorder that affects the body's ability to recycle and reuse biotin, a type of B vitamin. Biotinidase is an enzyme that helps release biotin from proteins in the food we eat and recycle it for use by the body.

In people with biotinidase deficiency, the biotinidase enzyme is either partially or completely missing, leading to a decrease in available biotin. This can result in a variety of symptoms, including seizures, developmental delays, hearing and vision loss, skin rashes, hair loss, and muscle weakness.

There are two main types of biotinidase deficiency: partial deficiency and profound deficiency. Partial deficiency means that some biotinidase activity is present, but not enough to prevent symptoms. Profound deficiency means that there is little or no biotinidase activity, resulting in more severe symptoms.

Biotinidase deficiency can be diagnosed through a blood test that measures the level of biotinidase enzyme activity. Treatment typically involves taking biotin supplements to replace the missing biotin and prevent symptoms from developing or worsening. With early diagnosis and treatment, people with biotinidase deficiency can often lead normal lives.

Biotinidase is an enzyme that is responsible for the release of biotin, a vital nutrient, from proteins in the body. Biotin is essential for various metabolic processes, including the synthesis of fatty acids and glucose. Biotinidase deficiency can lead to serious health problems, such as seizures, developmental delays, and hearing and vision loss. Therefore, biotinidase levels are often measured in newborn screening tests to identify babies who may be at risk for this rare but treatable condition.

Multiple carboxylase deficiency (MCD) is a rare genetic disorder that affects the body's ability to metabolize certain amino acids, particularly those that contain sulfur. It is caused by mutations in the genes responsible for producing enzymes involved in the biotin-dependent carboxylation reactions, which are critical for various metabolic processes in the body.

There are two major types of MCD:

1. Profound multiple carboxylase deficiency (also known as Type II biotinidase deficiency): This form is more severe and is caused by a defect in the holocarboxylase synthetase enzyme, which is responsible for attaching biotin to several carboxylases.
2. Biotin-responsive multiple carboxylase deficiency (also known as Type I biotinidase deficiency): This form is milder and is caused by a defect in the biotinidase enzyme, which recycles biotin in the body. However, it can be treated with biotin supplementation.

Symptoms of MCD may include:

* Developmental delay
* Seizures
* Hypotonia (low muscle tone)
* Ataxia (lack of coordination)
* Rash
* Hair loss
* Acidosis (high levels of acid in the body)
* Coma and even death, if left untreated

Early diagnosis and treatment with biotin supplementation can significantly improve outcomes for individuals with MCD.

Amidohydrolases are a class of enzymes that catalyze the hydrolysis of amides and related compounds, resulting in the formation of an acid and an alcohol. This reaction is also known as amide hydrolysis or amide bond cleavage. Amidohydrolases play important roles in various biological processes, including the metabolism of xenobiotics (foreign substances) and endogenous compounds (those naturally produced within an organism).

The term "amidohydrolase" is a broad one that encompasses several specific types of enzymes, such as proteases, esterases, lipases, and nitrilases. These enzymes have different substrate specificities and catalytic mechanisms but share the common ability to hydrolyze amide bonds.

Proteases, for example, are a major group of amidohydrolases that specifically cleave peptide bonds in proteins. They are involved in various physiological processes, such as protein degradation, digestion, and regulation of biological pathways. Esterases and lipases hydrolyze ester bonds in various substrates, including lipids and other organic compounds. Nitrilases convert nitriles into carboxylic acids and ammonia by cleaving the nitrile bond (C≡N) through hydrolysis.

Amidohydrolases are found in various organisms, from bacteria to humans, and have diverse applications in industry, agriculture, and medicine. For instance, they can be used for the production of pharmaceuticals, biofuels, detergents, and other chemicals. Additionally, inhibitors of amidohydrolases can serve as therapeutic agents for treating various diseases, such as cancer, viral infections, and neurodegenerative disorders.

Biotin is a water-soluble vitamin, also known as Vitamin B7 or Vitamin H. It is a cofactor for several enzymes involved in metabolism, particularly in the synthesis and breakdown of fatty acids, amino acids, and carbohydrates. Biotin plays a crucial role in maintaining healthy skin, hair, nails, nerves, and liver function. It is found in various foods such as nuts, seeds, whole grains, milk, and vegetables. Biotin deficiency is rare but can occur in people with malnutrition, alcoholism, pregnancy, or certain genetic disorders.

Seborrheic dermatitis is a common, inflammatory skin condition that mainly affects the scalp, face, and upper part of the body. It causes skin irritation, flaking, and redness, often in areas where the skin is oily or greasy. The exact cause of seborrheic dermatitis is not fully understood, but it appears to be related to a combination of genetic, environmental, and microbial factors.

The symptoms of seborrheic dermatitis can vary in severity and may include:

* Greasy or flaky scales on the scalp, eyebrows, eyelashes, ears, or beard
* Redness and inflammation of the skin
* Itching, burning, or stinging sensations
* Yellow or white crusty patches on the scalp or other affected areas
* Hair loss (in severe cases)

Seborrheic dermatitis is a chronic condition that tends to flare up and then subside over time. While there is no cure for seborrheic dermatitis, various treatments can help manage the symptoms and prevent complications. These may include medicated shampoos, topical creams or ointments, and lifestyle changes such as stress reduction and avoiding triggers that worsen symptoms.

It is important to note that seborrheic dermatitis should not be confused with other skin conditions, such as psoriasis or eczema, which may have similar symptoms. A healthcare professional can provide a proper diagnosis and recommend appropriate treatment options based on the individual's specific needs.

An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.

Neurocutaneous syndromes are a group of rare, genetic disorders that primarily affect the nervous system and skin. These conditions are present at birth or develop in early childhood. They are characterized by the growth of benign tumors along nerve pathways (neurocutaneous) and various abnormalities of the skin, eyes, brain, spine, and other organs.

Some common examples of neurocutaneous syndromes include:

1. Neurofibromatosis type 1 (NF1): A condition characterized by multiple café-au-lait spots on the skin, freckling in the axillary and inguinal regions, and neurofibromas (benign tumors of the nerves).
2. Neurofibromatosis type 2 (NF2): A condition that primarily affects the auditory nerves and is characterized by bilateral acoustic neuromas (vestibular schwannomas), which can cause hearing loss, tinnitus, and balance problems.
3. Tuberous sclerosis complex (TSC): A condition characterized by benign tumors in various organs, including the brain, skin, heart, kidneys, and lungs. The skin manifestations include hypomelanotic macules, facial angiofibromas, and shagreen patches.
4. Sturge-Weber syndrome (SWS): A condition characterized by a port-wine birthmark on the face, which involves the trigeminal nerve distribution, and abnormal blood vessels in the brain, leading to seizures, developmental delays, and visual impairment.
5. Von Hippel-Lindau disease (VHL): A condition characterized by the growth of benign tumors in various organs, including the brain, spinal cord, kidneys, pancreas, and adrenal glands. The tumors can become malignant over time.
6. Ataxia-telangiectasia (A-T): A condition characterized by progressive ataxia (loss of coordination), oculocutaneous telangiectasias (dilated blood vessels in the skin and eyes), immune deficiency, and increased risk of cancer.

Early diagnosis and management of neurocutaneous disorders are essential to prevent complications and improve outcomes. Regular follow-up with a multidisciplinary team, including neurologists, dermatologists, ophthalmologists, geneticists, and other specialists, is necessary to monitor disease progression and provide appropriate interventions.

... can also appear later in life. This is referred to as "late-onset" biotinidase deficiency. The symptoms ... Profound biotinidase deficiency refers to situations where enzyme activity is 10% or less. Individuals with partial biotinidase ... Mutations in the BTD gene cause biotinidase deficiency. Biotinidase is the enzyme that is made by the BTD gene. Many mutations ... The symptoms of biotinidase deficiency (and dietary deficiency of biotin) can be quite severe. A 2004 case study from ...
Biotinidase deficiency is an inherited disorder that affects how the body is able to process biotin. People will be diagnosed ... Wolf B (1993). "Biotinidase Deficiency". In Adam MP, Mirzaa GM, Pagon RA, Wallace SE (eds.). GeneReviews®. Seattle (WA): ... Treatment for biotinidase deficiency is biotin supplementation therapy every day. The treatment demonstrated developmental ... B12 and folate tests confirmed deficiencies that resulted in Congenital intrinsic factor deficiency and Imerslund Gräsbeck ...
AMACR Biotinidase deficiency; 253260; BTD Birk-Barel mental retardation dysmorphism syndrome; 612292; KCNK9 Birt-Hogg-Dubé ... SDHD CPT deficiency, hepatic, type IA; 255120; CPT1A CPT deficiency, hepatic, type II; 600649; CPT2 CPT II deficiency, lethal ... F11 Factor XII deficiency; 234000; F12 Factor XIIIA deficiency; 613225; F13A1 Factor XIIIB deficiency; 613235; F13B Failure of ... CD96 C5 deficiency; 609536; C5 C6 deficiency; 612446; C6 C7 deficiency; 610102; C7 Caffey disease; 114000; COL1A1 Campomelic ...
Forms include: Holocarboxylase synthetase deficiency - neonatal; Biotinidase deficiency - late onset; If left untreated, the ... The deficiency can be in biotinidase or holocarboxylase synthetase. These conditions respond to biotin. ... "Multiple Carboxylase Deficiency". Archived from the original on 2008-08-28. "Definition: multiple carboxylase deficiency from ... Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes. ...
Biotinidase deficiency Holocarboxylase synthetase deficiency Multiple carboxylase deficiency Durance TD (1991). "Residual Avid ... 2006) reported a case of partial biotinidase deficiency (plasma biotinidase level of 1.3 nm/min/mL) in a 7-month-old boy. The ... ISBN 978-0-07-913035-8. GeneReviews/NCBI/NIH/UW entry on Biotinidase deficiency OMIM entries on Biotinidasa deficiency ( ... Genetic disorders such as multiple carboxylase deficiency (MCD) (which includes biotinidase deficiency and holocarboxylase ...
Zempleni, Janos; Hassan, Yousef I; Wijeratne, Subhashinee SK (2008-11-01). "Biotin and biotinidase deficiency". Expert Review ... it has been shown to reverse deficiency in dogs born deficient. Symptoms of biotin deficiency include alopecia and ... A deficiency in vitamin A can cause the common symptoms of dermatitis (dry, scaling skin and dull coat). Vitamin B7, also known ... Vitamin A deficiency can lead to rough coat, scaling of skin, and other dermatitis issues like alopecia. It is also essential ...
... deficiency is an inherited disorder caused by mutations in the BTD gene. When biotinidase activity is deficient, ... Mutations in the BTD gene cause biotinidase deficiency. Approximately 100 mutations in the BTD gene that lead to biotinidase ... Wolf B (2003). "Biotinidase Deficiency: New Directions and Practical Concerns". Curr Treat Options Neurol. 5 (4): 321-328. doi: ... Hymes J, Stanley CM, Wolf B (2001). "Mutations in BTD causing biotinidase deficiency". Hum Mutat. 18 (5): 375-81. doi:10.1002/ ...
Enzyme assays are used to screen for galactosemia and biotinidase deficiency. Immunoassays measure thyroid hormones for the ... Proximal urea cycle defects, such as ornithine transcarbamylase deficiency and carbamoyl phosphate synthetase deficiency are ... "Glutaryl-CoA dehydrogenase deficiency". Orphanet. The portal for rare diseases and orphan drugs. Retrieved 21 December 2019. ... Chase, N. M.; Verbsky, J. W.; Routes, J. M. (2010). "Newborn screening for T-cell deficiency". Current Opinion in Allergy and ...
Enzyme assays are used to screen for galactosemia and biotinidase deficiency. Immunoassays measure thyroid hormones for the ... Mitchell, J. J.; Trakadis, Y. J.; Scriver, C. R. (2011). "Phenylalanine hydroxylase deficiency". Genetics in Medicine. 13 (8): ...
Symptoms are very similar to biotinidase deficiency and treatment - large doses of biotin - is also the same.[citation needed] ... Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body is unable to use the vitamin biotin ... The signs and symptoms of holocarboxylase synthetase deficiency typically appear within the first few months of life, but the ... "holocarboxylase synthetase deficiency". Genetics Home Reference. Retrieved 2017-05-09. This article incorporates public domain ...
... deficiency Biotin sulfoxide Biotinidase deficiency Biotinylation Multiple carboxylase deficiency NeutrAvidin Photobiotin ... Biotinidase deficiency is a deficiency of the enzyme that recycles biotin, the consequence of an inherited genetic mutation. ... Profound biotinidase deficiency, defined as less than 10% of normal serum enzyme activity, which has been reported as 7.1 nmol/ ... Neonatal screening for biotinidase deficiency started in the United States in 1984, which as of 2017 was reported as required ...
... biocytin can be used to measure the biotinidase activity and therefore diagnose biotinidase deficiency. Biocytin is also used ... The enzyme biotinidase cleaves biocytin and makes biotin available to be reused by other enzymes. Because biocytin is the ...
... such as biotinidase deficiency and holocarboxylase synthetase deficiency) can be treated solely with biotin. Individuals with ... 3-Methylcrotonyl-CoA carboxylase deficiency also known as 3-Methylcrotonylglycinuria or BMCC deficiency is an inherited ... In some cases, people with gene mutations that cause 3-methylcrotonyl-CoA carboxylase deficiency never experience any signs or ... 3-Methylcrotonyl-CoA carboxylase deficiency at NLM Genetics Home Reference (Articles with short description, Short description ...
"Different Organic Acid Patterns in Urine and in Cerebrospinal Fluid in a Patient with Biotinidase Deficiency", Organic ... sialic acid deficiency related to NANS and the malformation disorders related to EN1 (gene) and the EN1-regulating lncRNA ... Insights from sFRP4 Deficiency in Pyle's Disease". New England Journal of Medicine. 374 (26): 2553-2562. doi:10.1056/ ... Insights from sFRP4 Deficiency in Pyle's Disease". New England Journal of Medicine. 374 (26): 2553-2562. doi:10.1056/ ...
Genetic conditions Biotinidase deficiency, multiple carboxylase deficiency, or nongenetic deficiencies of biotin Diabetes ... and stroke-like episodes Pyruvate dehydrogenase deficiency Pyruvate carboxylase deficiency Leigh syndrome Drugs Linezolid ... 6-bisphosphatase deficiency Glucose-6-phosphatase deficiency GRACILE syndrome Mitochondrial encephalomyopathy, lactic acidosis ... Fialuridine Other Thiamine deficiency (especially during TPN) Impaired delivery of oxygen to cells in the tissues (e.g., from ...
... right ventricular dysplasia Atransferrinemia Autism Autosomal dominant optic atrophy ADOA plus syndrome Biotinidase deficiency ... biotinidase C3orf14-Chromosome 3 open reading frame 14: predicted DNA binding protein. CFAP20DC: encoding protein Chromosome 3 ... Okinawa type Night blindness Nonsyndromic deafness Ovarian cancer Porphyria Propionic acidemia Protein S deficiency Pseudo- ... 3-Methylcrotonyl-CoA carboxylase deficiency 3q29 microdeletion syndrome Acute myeloid leukemia (AML) Alkaptonuria ...
... administration of biotin to restore activity of several enzymes affected by deficiency of biotinidase, treatment with NTBC in ... In general, metabolic disorders arise from enzyme deficiencies that disrupt normal metabolic pathways. For instance, in the ... genetics involves the diagnosis and management of inborn errors of metabolism in which patients have enzymatic deficiencies ...
Hartnup disease Biotinidase deficiency Ornithine carbamoyltransferase deficiency Carbamoyl-phosphate synthase I deficiency ... Alkaptonuria Aspartylglucosaminuria Branched-chain keto acid dehydrogenase kinase deficiency Methylmalonic acidemia Maple syrup ...
... syndrome Binswanger's disease Bipolar disorder Bipolar I disorder Bipolar II disorder Biotin deficiency Biotinidase deficiency ... and cerebral calcification Berylliosis Beta ketothiolase deficiency Beta-galactosidase-1 deficiency Beta-mannosidosis Beta- ... Buschke-Ollendorff syndrome Bustos-Simosa-Pinto-Cisternas syndrome Buttiens-Fryns syndrome Butyrylcholinesterase deficiency ...
Other causes of hair loss include: Alopecia mucinosa Biotinidase deficiency Chronic inflammation Diabetes Pseudopelade of Brocq ... and malnutrition including iron deficiency. Causes of hair loss that occurs with scarring or inflammation include fungal ...
Mitochondrial DNA Mutations Nuclear DNA mutations Biotinidase deficiency Urea cycle defects Epigenetic mechanisms may increase ... deficiency X-linked creatine transporter defect 6-N-trimethyllysine dioxygenase deficiency Adenylosuccinate lyase deficiency ... Homocystinuria Branched-chain ketoacid dehydrogenase kinase deficiency Succinic semialdehyde dehydrogenase deficiency Smith- ... Thyroxine deficiencies can be caused by inadequate iodine in the diet, and by environmental agents that interfere with iodine ...
Sanfilippo syndrome 277.6 Other deficiencies of circulating enzymes Alpha 1-antitrypsin deficiency Biotinidase deficiency ... acid deficiency 268 Vitamin D deficiency 269 Other nutritional deficiencies 269.0 Deficiency of vitamin K 269.1 Deficiency of ... of vitamin A deficiency 264.8 Other manifestations of vitamin A deficiency 264.9 Unspecified vitamin A deficiency 265 Thiamine ... I deficiency Carnitine palmitoyltransferase II deficiency Very long-chain acyl-coenzyme A dehydrogenase deficiency Long-chain 3 ...
... multiple carboxylase deficiency MeSH C18.452.648.066.620.100 - biotinidase deficiency MeSH C18.452.648.066.620.380 - ... multiple carboxylase deficiency MeSH C18.452.648.202.720.100 - biotinidase deficiency MeSH C18.452.648.202.720.380 - ... vitamin A deficiency MeSH C18.654.521.500.133.699 - vitamin B deficiency MeSH C18.654.521.500.133.699.160 - choline deficiency ... magnesium deficiency MeSH C18.654.521.500.617 - potassium deficiency MeSH C18.654.521.500.708 - protein deficiency MeSH C18.654 ...
... multiple carboxylase deficiency MeSH C16.320.565.066.620.100 - biotinidase deficiency MeSH C16.320.565.066.620.380 - ... multiple carboxylase deficiency MeSH C16.320.565.202.720.100 - biotinidase deficiency MeSH C16.320.565.202.720.380 - ... factor V deficiency MeSH C16.320.099.310 - factor VII deficiency MeSH C16.320.099.320 - factor X deficiency MeSH C16.320. ... 099.325 - factor XI deficiency MeSH C16.320.099.330 - factor XII deficiency MeSH C16.320.099.335 - factor XIII deficiency MeSH ...
1 in 5,000 Biotinidase deficiency (BIOT) > 1 in 75,000 Congenital adrenal hyperplasia (CAH) > 1 in 25,000 Classical ... Miscellaneous multisystem diseases Galactokinase deficiency Galactose epimerase deficiency Maternal vitamin B12 deficiency In ... L-3-hydroxy acyl-CoA dehydrogenase deficiency Medium-chain ketoacyl-CoA thiolase deficiency Dienoyl-CoA reductase deficiency ... transferase deficiency type 1 Carnitine palmityl transferase deficiency type 2 Short-chain acyl-CoA dehydrogenase deficiency ( ...
... , also known as propionic aciduria or propionyl-CoA carboxylase deficiency (PCC deficiency), is a rare ... found in blood and urine along with normal activity of biotinidase and normal levels of methylmalonic acid. Patients with ... and that propionic acidemia and methylmalonic acidemia are caused by deficiencies in the same enzyme pathway. Methylmalonic ...
Biotinidase deficiency can also appear later in life. This is referred to as "late-onset" biotinidase deficiency. The symptoms ... Profound biotinidase deficiency refers to situations where enzyme activity is 10% or less. Individuals with partial biotinidase ... Mutations in the BTD gene cause biotinidase deficiency. Biotinidase is the enzyme that is made by the BTD gene. Many mutations ... The symptoms of biotinidase deficiency (and dietary deficiency of biotin) can be quite severe. A 2004 case study from ...
Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. Explore symptoms, ... Biotinidase deficiency. ... Profound biotinidase deficiency results when the activity of biotinidase is reduced to less than 10 percent of normal. Partial ... Wolf B. Biotinidase deficiency: if you have to have an inherited metabolic disease, this is the one to have. Genet Med. 2012 ...
Biotinidase (BTD), a ubiquitous mammalian cell enzyme, is present in high levels in the serum, liver, and kidneys. Its primary ... Profound biotinidase deficiency has an incidence of about 1 per 137,400 population; partial biotinidase deficiency affects ... encoded search term (Biotinidase Deficiency) and Biotinidase Deficiency What to Read Next on Medscape ... Older infants with multiple carboxylase deficiency usually have biotinidase deficiency. Both enzyme deficiencies are known to ...
Biotinidase deficiency. Biotinidase deficiency is secondary to absence of the water-soluble B-complex vitamin biotin. Biotin ... Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency. Hear Res 2002; ... If biotinidase deficiency is not recognized and corrected by daily addition of biotin to the diet, affected persons develop ... Wolf B, Spencer R, Gleason T . Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. J ...
Biotinidase deficiency. (2017).. *. Dietary reference intakes (DRIs ... biotin transport deficiency, and phenylketonuria. Holocarboxylase synthetase deficiency and biotin transport deficiency are ... 5. Biotinidase deficiency. This hereditary disorder is very rare. It prevents your body from reusing biotin. Typically, the ... People with biotinidase deficiency. This rare hereditary disorder prevents the body from reusing biotin. People with the ...
What if it was not RA, but adult Biotinidase Deficiency instead?. There are too many things I need and want to say to put into ... We also learned that there is a name for this disease, it is Biotinidase Deficiency. They say 1:60,000 babies are born with it ... Research has told her that Biotinidase Deficiency could be the cause of her food allergies; she cannot wait to try an avocado ... he had just had someone with a B6 deficiency recently though. B7 deficiencies are not tracked much it seems; they do it on ...
Individuals with partial biotinidase deficiency may have hypotonia, skin rash, and hair loss, particularly during times of ... Older children and adolescents with profound biotinidase deficiency often exhibit motor limb weakness, spastic paresis, and ... young children with profound biotinidase deficiency usually exhibit neurologic abnormalities including seizures, hypotonia, ... Biotinidase deficiency (8808004); Late-onset multiple carboxylase deficiency (8808004); Deficiency of biotinidase (8808004). ...
... consistent with biotinidase deficiency. Biotinidase activity was recorded as 0.5 nmol/mL/min, confirming the diagnosis. The ... Biotinidase deficiency is a treatable cause of infantile epilepsy and the presentation can be nonspecific. The seizures are ... I had a female patient with biotinidase deficiency who presented at 3 years of age with ataxia. Serum lactate was 33 (,20). CSF ... Case 2] Urine organic acids were suggestive of biotinidase deficiency with moderate lactic aciduria, marked increase in 3- ...
Biotinidase deficiency: Same-day TAT. Health and Medicine Reference Covering Thousands of Diseases and Prescription Drugs. ... Biotinidase deficiency. Biotinidase deficiency is an inherited disorder in which the body is not able to process the vitamin ... Mutations in the BTD gene cause biotinidase deficiency. Biotinidase is the enzyme that is made by the BTD gene. Many mutations ... biotinidase deficiency and G6PD deficiency. Same-day turnaround of quantitative patient results means physicians can respond to ...
T1 - Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in ... Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in ... Profound biotinidase deficiency was also identified in an older brother, who exhibited peripheral neuropathy since four years ... Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in ...
Biotinidase deficiency. Sources: Raghuveer TS, Garg U, Graf WD. Inborn errors of metabolism in infancy and early childhood: an ... Participation in proficiency testing has been reported to help laboratories reduce analytic deficiencies, improve testing ... identifying concerns and deficiencies in quality assurance practices in biochemical genetic testing and newborn screening and ... a secondary marker for medium chain acyl-CoA dehydrogenase deficiency), immunoreactive trypsinogen (a primary marker for cystic ...
... deficiency was defined as a distinct genetic disorder several years after its initial clinical description, similar to the ... Deficient biotinidase activity in late-onset multiple carboxylase deficiency. N Engl J Med. 1983 Jan 20. 308(3):161. [QxMD ... encoded search term (Holocarboxylase Synthetase Deficiency) and Holocarboxylase Synthetase Deficiency What to Read Next on ... Holocarboxylase Synthetase Deficiency Clinical Presentation. Updated: Apr 17, 2018 * Author: Karl S Roth, MD; Chief Editor: ...
Biotinidase Deficiency. These keywords were added by machine and not by the authors. This process is experimental and the ... Glycogen synthase deficiency (Glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three ... Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy. Mol Genet Metab. 2005;84:305-12 ... Pyrivate carboxylase deficiency: metabolic characteristics and new neurological aspects. Ann Neurol. 2006;59:121-7. ...
Major histocompatibility complex class II deficiency D81.810 Biotinidase deficiency D81.818 Other biotin-dependent carboxylase ... Antibody deficiency with near-normal immunoglobulins or with hyperimmunoglobulinemia D80.8 Other immunodeficiencies with ... Major histocompatibility complex class I deficiency D81.7 ... Selective deficiency of immunoglobulin A [IgA] D80.3 Selective ...
Biotinidase Deficiency 1:60,000 Severe Combined Immunodeficiency (SCID) 1:100,000 Mucopolysaccharidosis Type I (MPS-I) 1: ... Certain other disorders of amino acid metabolism (not including Ornithine Transcarbamylase Deficiency (OTC) 1 1:20,000 ...
Biotinidase deficiency. Carnitine palmitoyltransferase II deficiency. Carnitine uptake defect. Citrullinemia, type I. Cobalamin ... Trifunctional protein deficiency. Tyrosinemia type 1. Very long chain acyl-CoA dehydrogenase deficiency. X-linked ... Long-chain L-3-OH acyl-CoA dehydrogenase deficiency. Maple syrup urine disease. Medium-chain acyl-CoA dehydrogenase deficiency ... Methylmalonic acidemia: mutase deficiency. Mitochondrial acetoacetyl-CoA thiolase deficiency. Mucopolysaccharidosis type 1. ...
Biotinidase deficiency. An enzyme is missing resulting in a deficiency in biotin. This deficiency can lead to seizures, hearing ... Citrullinaemia (argininosuccinate synthetase deficiency, citrin deficiency). *Glutaric acidaemia type I (glutaryl-CoA ... Isovaleric acidaemia (isovaleryl-CoA dehydrogenase deficiency). *Methylmalonic acidurias (mutase deficiency, CblA, CblB, CblC, ... Severe combined immune deficiency (SCID). A lack of cells that are essential for immunity.. Antibiotics, isolation precautions ...
Biotinidase Deficiency (BIOT). To detect conditions where the infant is unable to recycle biotin (vitamin) leading to a ... Severe Combined Immune Deficiency (SCID). To detect conditions that cause extremely poor immunity. This causes infants to be ... For female patients, it may be helpful in determining carrier status or exclude OTC deficiency after an allupurinol loading ... Detect accumulation of specific steroids as a result of enzyme deficiencies in congenital adrenal hyperplasia (CAH).. ...
Biotinidase deficiency. BTD. CNV. Isolated growth hormone deficiency, type III, X-linked. BTK. CNV. ... Short chain acyl-CoA dehydrogenase deficiency. ACADS. CNV. Short/branched chain acyl-CoA dehydrogenase deficiency. ACADSB. CNV ... Corticosterone methyloxidase deficiency. CYP11B2. CNV. Congenital adrenal hyperplasia, 17-alpha-hydroxylase deficiency. CYP17A1 ... 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency. PTS. CNV. Mitochondrial myopathy and sideroblastic anemia (MLASA1). ...
Biotinidase deficiency. *Galactosemia. *Glycogen storage disorders. *Homocystinuria. *Maple syrup urine disease (MSUD) ...
Administration of large doses of biotin is dramatically successful in cases of biotinidase deficiency.9 For the remaining ... 1988) A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts. Pediatr Res 24:95-100. ... 1988) Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complex. J Inherit Metab Dis 11:207 ... A male infant with PDC deficiency received up to 1500 mg/kg/day in an ultimately futile attempt to improve his acid-base ...
BIOT) Biotinidase deficiency*. *(CF) Cystic Fibrosis*. *(SCID) Severe Combined Immunodeficiency*. *(GALT) Classic Galactosemia* ...
have a biotinidase deficiency, meaning that the body is unable to release biotin from dietary protein ... A deficiency can lead to hair and skin problems, while a severe deficiency can result in neurological problems and a range of ... A biotin deficiency is rare, though pregnancy, breastfeeding, and a few other factors can increase the risk. ... If a person has a deficiency, a biotin supplement can boost levels in the body. However, anyone considering taking a supplement ...
A second healthy infant had two biotinidase deficiency (BTD) variants, and as a result of participation in the BabySeq Project ... Even if that child does have partial biotinidase deficiency, it is unclear whether the child would experience adverse effects ... indicated partial biotinidase deficiency. On the basis of the second test result, the investigators reclassified the second ... One infant has been diagnosed and treated for partial biotinidase deficiency, with unknown clinical benefit. Nine others have ...
A 3-year-old girl with a history of partial biotinidase deficien-cy diagnosed during infancy was referred to us for evaluation ... Although biotinidase deficiencies are known to be associated with visual disturbances, their association with retinal pigment ... She was being followed by a pediatric metab-olism clinic provider and was taking biotin for her biotinidase deficiency, and she ...
mitochondrial complex V (ATP synthase) deficiency nuclear type 4B mitochondrial complex V (ATP synthase) deficiency nuclear ... biotinidase deficiency + Birk-Barel syndrome Birk-Landau-Perez Syndrome Bjornstad syndrome bladder disease + ... urocanase deficiency urofacial syndrome + A syndrome that is characterized by inverted facial expressions in association with a ... Growth Deficiency and Mental Retardation with Facial Dysmorphism growth hormone insensitivity syndrome with immune ...
In an odd quirk, clinical symptoms of biotinidase deficiency in patients with underlying glycogen-storage disease Ia have been ... associated with marked elevations in biotinidase levels on serum assay. However, mass screening for biotinidase deficiency does ... 1] Two of the patients had almost total deficiency of hepatic glucose-6-phosphatase, whereas the remaining 4 had normal enzyme ...
Previously, high-dose biotin therapy was confined to patients with biotinidase deficiency, certain forms of alopecia, or ...
First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children: D.N. ... 128, 529 (2010), Application(s): Blood from patients with DPD deficiency, Abstract; Full Text ...
Consider a pregnant woman who wants to understand her childs risk of inheriting biotinidase deficiency (BTD), an autosomal ...
  • Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness. (
  • The more severe form of the disorder is called 'profound Biotinidase deficiency' and may cause delayed development, seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. (
  • Furthermore, in rare cases, even individuals with profound deficiencies of biotinidase can be asymptomatic. (
  • Profound biotinidase deficiency refers to situations where enzyme activity is 10% or less. (
  • Profound biotinidase deficiency results when the activity of biotinidase is reduced to less than 10 percent of normal. (
  • Serum and cerebrospinal fluid studies remained unremarkable, but profound biotinidase enzyme activity deficiency was identified, as were three mutations in the BTD gene. (
  • Chedrawi AK, Ali A, Al Hassnan ZN, Faiyaz-Ul-Haque M, Wolf B. Profound biotinidase deficiency in a child with predominantly spinal cord disease. (
  • Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. (
  • Wolf B, Spencer R, Gleason T. Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. (
  • Evaluation by a clinical geneticist or metabolic specialist annually for those with profound biotinidase deficiency and every two years for those with partial biotinidase deficiency. (
  • Deficiency can be partial or profound. (
  • Newborn screening data in the United States indicate that the incidence of biotinidase deficiency is about 1:67,766 for profound deficiency and 1:24,957 for partial deficiency. (
  • Many mutations are known to cause profound deficiency, but a single mutation (p.D444H) is responsible for almost all cases of partial deficiency. (
  • Though usually diagnosed by newborn screening, partial or profound biotinidase deficiency should be considered in any child presenting with consistent clinical and biochemical findings. (
  • Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. (
  • Older children and adolescents with profound biotinidase deficiency often exhibit motor limb weakness, spastic paresis, and decreased visual acuity. (
  • Biotinidase deficiency is caused by genetic changes in the BTD gene and is inherited in an autosomal recessive manner. (
  • Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. (
  • Biotinidase deficiency is inherited in an autosomal recessive pattern, which means the defective gene is located on an autosome, and two copies of the defective gene - one from each parent - must be inherited for a person to be affected by the disorder. (
  • Biotinidase deficiency is an autosomal recessive condition. (
  • Biotinidase deficiency is caused by mutations in the BTD gene and inheritance is autosomal recessive. (
  • Biotinidase deficiency is an autosomal recessive genetic disorder which is not uncommon in the Saudi population. (
  • A second healthy infant had two biotinidase deficiency ( BTD) variants, and as a result of participation in the BabySeq Project was diagnosed and treated for partial biotinidase deficiency, an autosomal recessive disorder. (
  • Functionally, there is no significant difference between dietary biotin deficiency and genetic loss of biotin-related enzyme activity. (
  • This biochemical analysis of biotinidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Biotinidase Deficiency. (
  • [ 1 ] Two of the patients had almost total deficiency of hepatic glucose-6-phosphatase, whereas the remaining 4 had normal enzyme activity. (
  • Follow-up testing will include quantitative plasma acylcarnitine profile, serum biotinidase, urine organic acids, and enzyme activity assay in white blood cells. (
  • Biotin deficiency can result in behavioral disorders, lack of coordination, learning disabilities and seizures. (
  • Pediatric neurologists are trained to think of biotinidase deficiency to be associated with seizures in infancy, normally picked up in the first few months of life," he said. (
  • Salbert BA, Pellock JM, Wolf B. Characterization of seizures associated with biotinidase deficiency. (
  • Symptoms including seizures, developmental delay, cutaneous manifestations (skin rash, alopecia), optic atrophy, hearing loss, and respiratory problems occur only in those individuals with biotinidase deficiency prior to biotin treatment. (
  • 10% mean normal serum biotinidase activity) usually appear between ages one week and ten years, typically with optic atrophy, hypotonia, seizures, hair loss, and skin rash. (
  • Newborns are especially sensitive to biotinidase deficiency, and can have irreversible vision and hearing loss and seizures, although symptoms of biotinidase deficiency may also first occur in older children. (
  • Secondary deficiency is clinically similar, with failure to thrive, seizures, and other organic aciduria. (
  • Specifically how some other symptoms - " seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis " - associated with biotinidase deficiency are not a million miles away from what has been talked about in some autism literature too (see also the comments section of another post here ). (
  • The milder form is called 'partial Biotinidase deficiency' In some cases, these symptoms only appear during illness, infection, or other times of stress on the body. (
  • Partial biotinidase deficiency is a milder form of this condition. (
  • Partial biotinidase deficiency occurs when biotinidase activity is reduced to between 10 percent and 30 percent of normal. (
  • High incidence of partial biotinidase deficiency cases in newborns of Greek origin. (
  • Individuals with partial biotinidase deficiency (10%-30% of mean normal serum biotinidase activity) may develop symptoms only when stressed, such as during infection. (
  • [ Wolf: 2010 ] In partial biotinidase deficiency, symptoms are usually triggered when the requirement for biotin increases (stress, infections, or fever). (
  • Elsewhere the investigators noted that the diagnostic test conducted following an elevated NBS result indicated that the infant did not have partial biotinidase deficiency. (
  • The investigators conducted a second diagnostic test using serum which, unlike the first test, indicated partial biotinidase deficiency. (
  • Even if that child does have partial biotinidase deficiency, it is unclear whether the child would experience adverse effects without treatment. (
  • One infant has been diagnosed and treated for partial biotinidase deficiency, with unknown clinical benefit. (
  • Individuals with partial biotinidase deficiency may have hypotonia, skin rash, and hair loss, particularly during times of stress. (
  • Ornithine transcarbamylase (OTC) deficiency can occur as a severe neonatal-onset disease in males (but rarely in females) and as a post-neonatal-onset (also known as "late-onset" or partial deficiency) disease in males and females. (
  • Males and heterozygous females with post-neonatal-onset (partial) OTC deficiency can present from infancy to later childhood, adolescence, or adulthood. (
  • A case of partial biotinidase deficiency associated with autism. (
  • This system is a robust, cost-efficient screening solution for seven Newborn screening disorders including congenital hypothyroidism, phenylketonuria, congenital adrenal hyperplasia, galactosemia, cystic fibrosis, biotinidase and G6PD deficiency. (
  • Galactosemia, biotinidase deficiency, cystic fibrosis, severe combined immunodeficiency or SCID, Pompe disease or glycogen storage disease type 2, mucopolysaccharidosis type 1, X-linked adrenoleukodystrophy, spinal muscular atrophy or SMA, critical congenital heart disease, and hearing loss are some of them. (
  • When Do Symptoms of Biotinidase deficiency Begin? (
  • citation needed] The symptoms of biotinidase deficiency (and dietary deficiency of biotin) can be quite severe. (
  • Symptoms of biotinidase deficiency in neonates may make it difficult to differentiate holocarboxylase synthetase deficiency from biotinidase deficiency (see Pathophysiology), as patients with holocarboxylase synthetase deficiency also respond clinically well to biotin treatment. (
  • What are the symptoms of biotinidase deficiency? (
  • in several of the case reports of patients with biotinidase deficiency who presented with symptoms similar to NMO, the patients had been receiving immunomodulatory therapy. (
  • The clinical history and the neuroradiological findings have been reviewed for 5 patients with biotinidase deficiency. (
  • Most children with biotinidase deficiency are diagnosed by newborn screening tests. (
  • Although most children with biotinidase deficiency who take supplements will have no clinical or developmental problems, they may need more supplementation when physically stressed or going through puberty. (
  • Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency. (
  • Available at . (
  • Individuals with biotinidase deficiency who are diagnosed before they have developed symptoms (e.g., by newborn screening) and who are treated with biotin have normal development. (
  • To confirm the diagnosis of 3MCC deficiency, work with Newborn Screening Services ( see NM providers [3] ) . (
  • Unfortunately, newborn screening is overlooked, which denies the opportunity for the metabolic disorder/deficiency to be corrected and for the baby to lead a normal life and transform into a healthy child and adult. (
  • Metabolic difficulties in newborn screening include phenylketonuria or PKU, methylmalonic acidemia, tyrosinemia, citrullinemia, and medium-chain acyl CoA dehydrogenase deficiency. (
  • 15. Immunophenotypic analysis of lymphocyte subsets in newborns with biotinidase deficiency. (
  • Anderson DR, Viau K, Botto LD, Pasquali M, Longo N . Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency. (
  • Four main factors contribute to vitamin B deficiency: an unbalanced diet, excessive alcohol intake, different drugs, and disorders that induce gut malabsorption. (
  • Elevations in plasma homocysteine levels may be associated with homocystinuria, cobalamin disorders, and vitamin B12 or folic acid deficiencies. (
  • ABSTRACT The national neonatal screening programme in the United Arab Emirates currently includes 16 disorders: congenital hypothyroidism, sickle-cell diseases, congenital adrenal hyperplasia, biotinidase deficiency and 12 amino acid, organic acid and fatty acid disorders. (
  • The incidence of screened disorders were 1:1 873 for congenital hypothyroidism, 1:14 544 for phenylketonuria, 1:3 526 for amino acid, organic acid and fatty acid disorders, 1:9 030 for classical congenital adrenal hyperplasia, 1:8 300 for biotinidase deficiency, 1:2 384 for sickle-cell disease and 1:121 for sickle-cell traits. (
  • Symptoms of biotin deficiency are thinning and loss of body hair, scaly skin rashes around the eyes, nose, and mouth, brittle nails, and nervous system disorders. (
  • These technologies enable screening/monitoring for hearing loss, metabolic disorders/deficiencies, and neonatal jaundice as well as providing appropriate treatment solutions. (
  • The conditions for which neonatal screening has been proposed in the Indian scenario include hearing loss, congenital hypothyroidism, congenital adrenal hyperplasia (CAH), and glucose-6-phosphate dehydrogenase (G6PD) deficiency besides biotinidase deficiency and phenylketonuria. (
  • Mutations in the BTD gene reduce or eliminate the activity of biotinidase. (
  • Both the amount of biotin and the activity of biotinidase can be measured in the blood. (
  • Correct diagnosis of biotinidase deficiency can prevent ocular and spinal disability when the disorder is identified early and treated aggressively, the authors conclude. (
  • Biotinidase deficiency: initial clinical features and rapid diagnosis. (
  • Technical standards and guidelines for the diagnosis of biotinidase deficiency. (
  • Diagnosis of pyruvate dehydrogenase deficiency is confirmed by enzyme analysis of skin fibroblasts, DNA testing, or both. (
  • Biotinidase deficiency (BIO): hereditary metabolic disorder in which too little biotin (vitamin H) is produced. (
  • HMG-CoA-lyase deficiency (HMG): hereditary metabolic disorder in which the amino acid leucine is not broken down properly, resulting in suboptimal fatty acid oxidation leading to an energy deficiency. (
  • 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC deficiency): hereditary metabolic disorder in which certain proteins containing the amino acid leucine are not broken down sufficiently. (
  • In 3MCC deficiency, a lack of 3-methylcrotonyl-CoA carboxylase (usually present in the liver, fibroblasts, and leukocytes) impairs the breakdown of leucine, resulting in metabolic acidosis and occasional hypoglycemia. (
  • Primary deficiency incidence is 1/250,000 births but may be higher in certain American Indian populations. (
  • The incidence of 3MCC deficiency is approximately 1:50,000. (
  • SLC22A5 sequencing is a molecular test used to identify variants in the gene associated with Primary Carnitine Deficiency, systemic. (
  • Because several of these enzymes are impaired in biotinidase deficiency, the condition is considered a form of multiple carboxylase deficiency. (
  • Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment. (
  • Biotin supplementation is used for preventing and managing biotin deficiency associated with pregnancy, long-term parenteral nutrition, malnutrition, and multiple carboxylase deficiency. (
  • 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. (
  • Another function of the biotinidase enzyme is to recycle biotin from enzymes that are important in metabolism (processing of substances in cells). (
  • citation needed] Individuals lacking functional biotinidase enzymes can still have normal carboxylase activity if they ingest adequate amounts of biotin. (
  • Biotinidase detaches biotin from lysine and generates free biotin that can be attached to many enzymes, called carboxylases, and possibly used in other chemical reactions. (
  • Biotinidase is responsible for biotin recycling and biotin is an essential cofactor for activation of the carboxylase enzymes. (
  • In children who aren't treated, prognosis will depend on the severity of the enzyme deficiency, with children with less than 10% of normal biotin levels having the worst prognosis. (
  • Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. (
  • Biotinidase deficiency is a genetic disorder caused by the lack of an enzyme that processes biotin, an important cofactor in the processing of fats, carbohydrates, and protein. (
  • Absence of biotinidase leads to infantile or early childhood encephalopathy, seizure disorder, dermatitis, alopecia, neural deafness and optic atrophy. (
  • One such condition is biotinidase deficiency , a disorder in which the body can't recycle the vitamin biotin. (
  • For all individuals with OTC deficiency, typical neuropsychological complications include developmental delay, learning disabilities, intellectual disability, attention-deficit/hyperactivity disorder, and executive function deficits. (
  • There is no effective treatment for pyruvate carboxylase deficiency, but some patients with primary deficiency and all those with secondary deficiencies should be given biotin supplementation 5 to 20 mg orally once a day. (
  • Males with severe neonatal-onset OTC deficiency are asymptomatic at birth but become symptomatic from hyperammonemia in the first week of life, most often on day two to three of life, and are usually catastrophically ill by the time they come to medical attention. (
  • There is no clearly effective treatment for pyruvate dehydrogenase deficiency, although a low-carbohydrate or ketogenic diet and dietary thiamin supplementation have been beneficial for some patients. (
  • Dr. Scott's Pearl of Laboratory Medicine explores Biotinidase deficiency, a systemic enzyme defect that results in a variety of clinical features. (
  • Without biotinidase activity, the vitamin biotin cannot be separated from foods and therefore cannot be used by the body. (
  • Biotinidase removes biotin that is bound to proteins in food, leaving the vitamin in its free (unbound) state. (
  • Biotin deficiency may be caused by insufficient dietary uptake of biotin, drug-vitamin interactions and, perhaps, by increased biotin catabolism during pregnancy and in smokers. (
  • If these B vitamin deficiencies are left untreated, they can eventually cause symptoms such as peripheral neuropathy, heart attacks, strokes etc. (
  • This paper provides an in-depth summary of the most popular types of vitamin B, emphasizing why the body needs them, the symptoms of a deficiency, and what diet or foods are rich in them. (
  • Biotin is a vitamin, whereas biotinidase is an enzyme that allows our body to extract biotin from foods. (
  • Once biotinidase deficiency is diagnosed, it is easy to treat with biotin supplementation, which is a very benign therapy and in most cases can override the system," Santoro noted. (
  • Treatment is biotin supplementation depending on the level of existing biotinidase activity. (
  • Discussing how, within the increasingly large range of conditions that manifest autism or autistic behaviour(s), there may be one or two 'types' of autism that manifest biotin deficiency, there is a pretty obvious course of intervention as and when deficiency is found: supplementation. (
  • The deficiency of biotin is prevented by adequate consumption of foods rich in biotin or biotin supplementation. (
  • Mutations in the BTD gene cause biotinidase deficiency. (
  • There are at least 21 different mutations that have been found to lead to biotinidase deficiency. (
  • Wolf B. Worldwide survey of neonatal screening for biotinidase deficiency. (
  • Biotin deficiency is most common in people with congenital biotinidase deficiency, malabsorption (such as short-gut syndrome), pregnancy, alcoholism, and in people receiving long-term parenteral nutrition. (