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 ...
Delayed milestone
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 ...
List of OMIM disorder codes
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 ...
Multiple carboxylase deficiency
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. ...
Biotin deficiency
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 ...
Dog coat
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 ...
Biotinidase
... 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/ ...
Newborn screening
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 ...
Newborn Screening Saves Lives Reauthorization Act of 2013
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): ...
Holocarboxylase synthetase deficiency
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 ...
Biotin
... 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
... 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 ...
3-Methylcrotonyl-CoA carboxylase deficiency
... 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 ...
Andrea Superti-Furga
"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/ ...
Lactic acidosis
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 ...
Chromosome 3
... 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 ...
Medical genetics
... 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 ...
Congenital disorders of amino acid metabolism
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 ...
List of diseases (B)
... 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 ...
Hair loss
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 ...
Causes of autism
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 ...
List of ICD-9 codes 240-279: endocrine, nutritional and metabolic diseases, and immunity disorders
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 ...
List of MeSH codes (C18)
... 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 ...
List of MeSH codes (C16)
... 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 ...
List of disorders included in newborn screening programs
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 ( ...
Propionic acidemia
... , 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 ...