Biotinidase deficiency
Profound biotinidase deficiency refers to situations where enzyme activity is 10% or less. Individuals with partial biotinidase ... Biotinidase deficiency can also appear later in life. This is referred to as "late-onset" biotinidase deficiency. The symptoms ... Mutations in the BTD gene cause biotinidase deficiency. Biotinidase is the enzyme that is made by the BTD gene. Many mutations ... "Partial biotinidase deficiency: Clinical and biochemical features". The Journal of Pediatrics. 116 (1): 78-83. doi:10.1016/ ...
Biotin deficiency
2006) reported a case of partial biotinidase deficiency (plasma biotinidase level of 1.3 nm/min/mL) in a 7-month-old boy. The ... Biotinidase deficiency Holocarboxylase synthetase deficiency Multiple carboxylase deficiency Durance TD (1991). "Residual Avid ... 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 ...
Biotinidase
... deficiency is an inherited disorder caused by mutations in the BTD gene. When biotinidase activity is deficient, ... Approximately 1 in 60,000 newborns are affected by profound (less than 10 percent of normal enzyme activity) or partial (10-30 ... 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: ...
Biotin
Treatment of partial biotinidase deficiency is also recommended even though some untreated people never manifest symptoms. ... Biotin deficiency Biotin sulfoxide Biotinidase deficiency Biotinylation Multiple carboxylase deficiency NeutrAvidin Photobiotin ... Lifelong treatment with supplemental biotin is recommended for both profound and partial biotinidase deficiency. Inherited ... Biotinidase deficiency is a deficiency of the enzyme that recycles biotin, the consequence of an inherited genetic mutation. ...
List of OMIM disorder codes
... partial deficiency of; 120790; C1NH Complement factor H deficiency; 609814; HF1 Complement factor I deficiency; 610984; CFI ... AMACR Biotinidase deficiency; 253260; BTD Birk-Barel mental retardation dysmorphism syndrome; 612292; KCNK9 Birt-Hogg-Dubé ... due to ITGA7 deficiency; 613204; ITGA7 Muscular dystrophy, congenital, due to partial LAMA2 deficiency; 607855; LAMA2 Muscular ... SDHD CPT deficiency, hepatic, type IA; 255120; CPT1A CPT deficiency, hepatic, type II; 600649; CPT2 CPT II deficiency, lethal ...
Chromosome 3
... right ventricular dysplasia Atransferrinemia Autism Autosomal dominant optic atrophy ADOA plus syndrome Biotinidase deficiency ... Partial list of the genes located on p-arm (short arm) of human chromosome 3: ALAS1: aminolevulinate, delta-, synthase 1 APEH: ... The following is a partial list of genes on human chromosome 3. For complete list, see the link in the infobox on the right. ... encoding protein Zinc finger protein 717 Partial list of the genes located on q-arm (long arm) of human chromosome 3: ADIPOQ: ...
List of MeSH codes (C18)
... multiple carboxylase deficiency MeSH C18.452.648.066.620.100 - biotinidase deficiency MeSH C18.452.648.066.620.380 - ... The following is a partial list of the "C" codes for Medical Subject Headings (MeSH), as defined by the United States National ... 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 ...
Hair loss
Other causes of hair loss include: Alopecia mucinosa Biotinidase deficiency Chronic inflammation Diabetes Pseudopelade of Brocq ... Baldness is the partial or complete lack of hair growth, and part of the wider topic of "hair thinning". The degree and pattern ... and malnutrition including iron deficiency. Causes of hair loss that occurs with scarring or inflammation include fungal ...
List of MeSH codes (C16)
... multiple carboxylase deficiency MeSH C16.320.565.066.620.100 - biotinidase deficiency MeSH C16.320.565.066.620.380 - ... The following is a partial list of the "C" codes for Medical Subject Headings (MeSH), as defined by the United States National ... 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. ...