HOLOCARBOXYLASE SYNTHETASE DEFICIENCY PDF

Clin Genet. Epub Dec 2. Holocarboxylase synthetase deficiency: novel clinical and molecular findings. Multiple carboxylase deficiency MCD is an autosomal recessive metabolic disorder caused by defective activity of biotinidase or holocarboxylase synthetase HLCS in the biotin cycle. Clinical symptoms include skin lesions and severe metabolic acidosis.

Author:Tygotilar Dogrel
Country:Canada
Language:English (Spanish)
Genre:History
Published (Last):18 May 2017
Pages:349
PDF File Size:10.13 Mb
ePub File Size:11.43 Mb
ISBN:401-4-11302-475-1
Downloads:82802
Price:Free* [*Free Regsitration Required]
Uploader:Kim



Clin Genet. Epub Dec 2. Holocarboxylase synthetase deficiency: novel clinical and molecular findings. Multiple carboxylase deficiency MCD is an autosomal recessive metabolic disorder caused by defective activity of biotinidase or holocarboxylase synthetase HLCS in the biotin cycle. Clinical symptoms include skin lesions and severe metabolic acidosis. Here, we reported four unrelated Thai patients with MCD, diagnosed by urine organic acid analysis. Unlike Caucasians, which biotinidase deficiency has been found to be more common, all of our four Thai patients were affected by HLCS deficiency.

Instead of the generally recommended high dose of biotin, our patients were given biotin at 1. This low-dose biotin significantly improved their clinical symptoms and stabilized the metabolic state on long-term follow-up. Mutation analysis by polymerase chain reaction-sequencing of the entire coding region of the HLCS gene revealed the c. RW mutation in six of the eight mutant alleles. This suggests it as the most common mutation in the Thai population, which paves the way for a rapid and unsophisticated diagnostic method for the ethnic Thai.

Haplotype analysis revealed that the c. In addition, a novel mutation, c. GR , was identified, expanding the mutational spectrum of this gene.

HEER BY WARIS SHAH IN PUNJABI PDF

Holocarboxylase synthetase deficiency

Listen Making a diagnosis for a genetic or rare disease can often be challenging. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

DIN 70852 PDF

Holocarboxylase synthetase deficiency: novel clinical and molecular findings.

You can help by adding to it. May Genetics[ edit ] Holocarboxylase synthetase deficiency has an autosomal recessive pattern of inheritance. Mutations in the HLCS gene cause holocarboxylase synthetase deficiency. The HLCS gene makes an enzyme , holocarboxylase synthetase , that attaches biotin to other molecules.

ICOM 2820H PDF

Holocarboxylase synthetase deficiency: report of one case.

ORPHA Definition Holocarboxylase synthetase deficiency, a biotin-responsive multiple carboxylase deficiency MCD , is characterized by metabolic acidosis, lethargy, hypotonia, convulsions, and dermatitis. Most patients present in the newborn or early infantile period, but some become symptomatic in the later infantile period summary by Suzuki et al. Also see biotinidase deficiency , another form of MCD with a later onset. Care must be taken to differentiate the inherited multiple carboxylase deficiencies from acquired biotin deficiencies, such as those that develop after excessive dietary intake of avidin, an egg-white glycoprotein that binds specifically and essentially irreversibly to biotin Sweetman et al. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on biotin.

Related Articles