BiotinidaseLate-onsetBeta-ketothiolaAttachesMutationsSymptomsBiotin-responsive multiple carboxylasAutosomal recessiveMetabolismSeizuresGenome stabilityVitamin B deficienNeonatal FormDefectMutationMetabolic disorderProtein deficiencyDiagnosisCarboxylasePyruvatePrimary deficiencyImmune deficiencyAntenatalOrganicMolecular analysisSevere
Biotinidase9
- Symptoms are very similar to biotinidase deficiency and treatment - large doses of biotin - is also the same. (wikipedia.org)
- Deficient biotinidase activity in late-onset multiple carboxylase deficiency. (medscape.com)
- Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder caused by defective activity of biotinidase or holocarboxylase synthetase (HLCS) in the biotin cycle. (nih.gov)
- Unlike Caucasians, which biotinidase deficiency has been found to be more common, all of our four Thai patients were affected by HLCS deficiency. (nih.gov)
- This review focuses on the deficiencies of both biotin and biotinidase, and the medical management of such cases. (researchgate.net)
- The late-onset form is due to BIOTINIDASE DEFICIENCY . (bvsalud.org)
- Older children and adolescents with profound biotinidase deficiency often exhibit motor limb weakness, spastic paresis, and decreased visual acuity. (beds.ac.uk)
- Individuals with partial biotinidase deficiency may have hypotonia, skin rash, and hair loss, particularly during times of stress. (beds.ac.uk)
- A defect in the synthesis or function of biotin (deficiency of biotinidase, which is responsible for the cleaving of biotin from biocytin), or a deficiency of holocarboxylase synthetase (biotinmethylcrotonyl-CoA-carboxylase ligase), which catalyzes the incorporation of biotin into apocarboxylases, can however, lead to a similar clinical picture. (mhmedical.com)
Late-onset2
- A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency. (medlineplus.gov)
- 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. (beds.ac.uk)
Beta-ketothiola12
- Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. (blogspot.com)
- The signs and symptoms of beta-ketothiolase deficiency typically appear between the ages of 6 months and 24 months. (blogspot.com)
- How common is beta-ketothiolase deficiency? (blogspot.com)
- Beta-ketothiolase deficiency appears to be very rare. (blogspot.com)
- What genes are related to beta-ketothiolase deficiency? (blogspot.com)
- Mutations in the ACAT1 gene cause beta-ketothiolase deficiency. (blogspot.com)
- How do people inherit beta-ketothiolase deficiency? (blogspot.com)
- Where can I find information about diagnosis or management of beta-ketothiolase deficiency? (blogspot.com)
- You might also find information on the diagnosis or management of beta-ketothiolase deficiency in Educational resources and Patient support . (blogspot.com)
- You may find the following resources about beta-ketothiolase deficiency helpful. (blogspot.com)
- What other names do people use for beta-ketothiolase deficiency? (blogspot.com)
- What if I still have specific questions about beta-ketothiolase deficiency? (blogspot.com)
Attaches2
- The HLCS gene makes an enzyme, holocarboxylase synthetase, that attaches biotin to other molecules. (wikipedia.org)
- Holocarboxylase synthetase attaches biotin to certain enzymes that are essential for the normal production and breakdown of proteins, fats, and carbohydrates in the body. (medlineplus.gov)
Mutations4
- citation needed] Mutations in the HLCS gene cause holocarboxylase synthetase deficiency. (wikipedia.org)
- Mutations in the HLCS gene reduce the activity of holocarboxylase synthetase, preventing cells from using biotin effectively and disrupting many cellular functions. (wikipedia.org)
- 18. Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations. (nih.gov)
- Hereditary Disease C99147 Neonatal Research Network Terminology C98699 5 Alpha Steroid Reductase 2 Deficiency 3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency An autosomal recessive inherited disorder caused by mutations in the SRD5A2 gene. (nih.gov)
Symptoms8
- When Do Symptoms of Holocarboxylase synthetase deficiency Begin? (nih.gov)
- The signs and symptoms of holocarboxylase synthetase deficiency typically appear within the first few months of life, but the age of onset varies. (wikipedia.org)
- If these B vitamin deficiencies are left untreated, they can eventually cause symptoms such as peripheral neuropathy, heart attacks, strokes etc. (researchgate.net)
- 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. (researchgate.net)
- Signs and symptoms include cardiomyopathy, neutropenia, muscle weakness and atrophy, growth delay, cardiolipin deficiency and 3-methylglutaconic aciduria. (nih.gov)
- Moreover, we will discuss the symptoms and causes of biotin deficiency, emphasizing the importance of meeting your daily biotin requirements. (spavitoria.com)
- Biotin deficiency can potentially affect neurological function and lead to symptoms such as depression, lethargy, and cognitive impairments. (spavitoria.com)
- Biotin and iron deficiencies show symptoms like loss of eyebrows and eyelashes. (blogspot.com)
Biotin-responsive multiple carboxylas1
- Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. (medscape.com)
Autosomal recessive3
- C85866 Autosomal Recessive Hereditary Disorder C3492 Specific Enzyme Deficiency C99147 Neonatal Research Network Terminology C84524 5' 10' Methylenetetrahydrofolate Reductase Deficiency 5,10-Methylenetetrahydrofolate Reductase Deficiency A rare disorder associated with mental retardation, spasticity, and early death. (nih.gov)
- C85866 Autosomal Recessive Hereditary Disorder C3492 Specific Enzyme Deficiency C99147 Neonatal Research Network Terminology C34518 Cri du Chat Syndrome 5p Partial Monosomy Syndrome A genetic syndrome resulting from a partial deletion on the short arm of chromosome 5. (nih.gov)
- Body Structure C99147 Neonatal Research Network Terminology C61262 Sanfilippo Syndrome Acetyl-CoA Acyltransferase Deficiency A rare autosomal recessive lysosomal storage disease affecting the metabolism of mucopolysaccharides. (nih.gov)
Metabolism4
- 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. (bvsalud.org)
- 5,10-Methylenetetrahydrofolate reductase deficiency is the most prevalent inborn error of folate metabolism, and has variable clinical manifestations from asymptomatic to severe psychomotor retardation, microcephalus and seizure. (nih.gov)
- Accumulation of propionyl-CoA results in inhibitory effects on various pathways of intermediary mitochondrial metabolism and secondary carnitine deficiency. (mhmedical.com)
- Partial inactivation of P-protein could result secondarily from impaired metabolism of glycine resulting from deficiency in the activity of H-protein. (lookfordiagnosis.com)
Seizures1
- Secondary deficiency is clinically similar, with failure to thrive, seizures, and other organic aciduria. (merckmanuals.com)
Genome stability1
- The role of holocarboxylase synthetase in genome stability is mediated partly by epigenomic synergies between methylation and biotinylation events. (medscape.com)
Vitamin B deficien1
- Four main factors contribute to vitamin B deficiency: an unbalanced diet, excessive alcohol intake, different drugs, and disorders that induce gut malabsorption. (researchgate.net)
Neonatal Form2
- The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in holocarboxylase synthetase. (nih.gov)
- The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY . (bvsalud.org)
Defect1
- Decreased ureagenesis and hyperammonemia seem to be secondary to inhibition of mitochondrial carbamyl phosphate synthetase (CPS) by intramitochondrial accumulation of organic acids and CoA-esters caused by the defect in propionyl-CoA carboxylase. (mhmedical.com)
Mutation1
- Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation. (medscape.com)
Metabolic disorder1
- Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body is unable to use the vitamin biotin effectively. (wikipedia.org)
Protein deficiency1
- Chronic protein deficiency is associated with madarosis and telogen effluvium. (blogspot.com)
Diagnosis3
- Bandaralage SP, Farnaghi S, Dulhunty JM, Kothari A. Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review. (medlineplus.gov)
- First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency. (medscape.com)
- Diagnosis of pyruvate dehydrogenase deficiency is confirmed by enzyme analysis of skin fibroblasts, DNA testing, or both. (merckmanuals.com)
Carboxylase5
- This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on biotin. (wikipedia.org)
- Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency. (medscape.com)
- 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. (merckmanuals.com)
- Carboxylase activities decrease substantially in response to biotin deficiency. (researchgate.net)
- We have developed an assay for holocarboxylase synthetase in extracts of human fibroblasts using as substrate apopropionyl-CoA carboxylase partially purified from livers of biotin -deficient rats . (lookfordiagnosis.com)
Pyruvate2
- Deficiency results in elevation of pyruvate and thus elevation of lactic acid levels. (merckmanuals.com)
- 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. (merckmanuals.com)
Primary deficiency1
- Primary deficiency incidence is 1/250,000 births but may be higher in certain American Indian populations. (merckmanuals.com)
Immune deficiency1
- Start with standard management and intervention, automatic external defibrillation, monitoring of patients with immune deficiency or intestinal obstruction. (albionfoundation.org)
Antenatal1
- Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates. (medscape.com)
Organic1
- Roth KS, Yang W, Foremann JW, Rothman R, Segal S. Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia. (medscape.com)
Molecular analysis1
- Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency. (nih.gov)
Severe2
- De Castro M, Zand DJ, Lichter-Konecki U, Kirmse B. Severe neonatal holocarboxylase synthetase deficiency in west african siblings. (medscape.com)
- 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. (beds.ac.uk)