Holocarboxylase synthetase deficiency

Common Name(s)

Holocarboxylase synthetase deficiency

Early-onset multiple carboxylase deficiency, or holocarboxylase deficiency, is an autosomal recessive disorder of biotin metabolism. See also late-onset or juvenile MCD ({253260}) caused by mutation in the biotinidase gene (BTD; {609019}). {19:Sweetman (1981)} recognized that multiple carboxylase deficiency could be classified into early and late forms. The early form showed higher urinary excretion of 3-hydroxyisovaleric acid and 3-hydroxypropionic acid than the late form and was associated with normal plasma biotin concentrations. {19:Sweetman (1981)} proposed a defect in holocarboxylase synthetase and intestinal biotin absorption, respectively. 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 ({21:Sweetman et al., 1981}) or prolonged parenteral alimentation without supplemental biotin ({8:Mock et al., 1981}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Holocarboxylase synthetase deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Holocarboxylase synthetase deficiency" returned 7 free, full-text research articles on human participants. First 3 results:

Management of a patient with holocarboxylase synthetase deficiency.
 

Author(s): Johan L K Van Hove, Sagi Josefsberg, Cynthia Freehauf, Janet A Thomas, Le Phuc Thuy, Bruce A Barshop, Michael Woontner, Donald M Mock, Pei-Wen Chiang, Elaine Spector, Iván Meneses-Morales, Rafael Cervantes-Roldán, Alfonso León-Del-Río

Journal: Mol. Genet. Metab.. 2008 Dec;95(4):201-5.

 

We investigated in a patient with holocarboxylase synthetase deficiency, the relation between the biochemical and genetic factors of the mutant protein with the pharmacokinetic factors of successful biotin treatment. A girl exhibited abnormal skin at birth, and developed in the first ...

Last Updated: 21 Nov 2008

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Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.
 

Author(s): Anylu Pérez-Monjaras, Rafael Cervantes-Roldán, Iván Meneses-Morales, Roy A Gravel, Sandra Reyes-Carmona, Sergio Solórzano-Vargas, Alfonso González-Noriega, Alfonso León-Del-Río

Journal: J. Biol. Chem.. 2008 Dec;283(49):34150-8.

 

Biotinidase catalyzes the hydrolysis of the vitamin biotin from proteolytically degraded biotin-dependent carboxylases. This key reaction makes the biotin available for reutilization in the biotinylation of newly synthesized apocarboxylases. This latter reaction is catalyzed by holocarboxylase ...

Last Updated: 1 Dec 2008

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Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase.
 

Author(s): Monica A Narang, Richard Dumas, Linda M Ayer, Roy A Gravel

Journal: Hum. Mol. Genet.. 2004 Jan;13(1):15-23.

 

The attachment of biotin to apocarboxylases is catalyzed by holocarboxylase synthetase (HCS). An inherited deficiency of HCS results in the disorder 'multiple carboxylase deficiency', which is characterized by reduced activity of all biotin-dependent carboxylases. Here we show that ...

Last Updated: 16 Dec 2003

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Holocarboxylase synthetase deficiency" returned 1 free, full-text review articles on human participants. First 3 results:

Microbial biotin protein ligases aid in understanding holocarboxylase synthetase deficiency.
 

Author(s): Nicole R Pendini, Lisa M Bailey, Grant W Booker, Matthew C Wilce, John C Wallace, Steven W Polyak

Journal: Biochim. Biophys. Acta. ;1784(7-8):973-82.

 

The attachment of biotin onto the biotin-dependent enzymes is catalysed by biotin protein ligase (BPL), also known as holocarboxylase synthase HCS in mammals. Mammals contain five biotin-enzymes that participate in a number of important metabolic pathways such as fatty acid biogenesis, ...

Last Updated: 16 Jun 2008

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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