Holocarboxylase synthetase deficiency

Common Name(s)

Holocarboxylase synthetase deficiency

Holocarboxylase synthetase deficiency (MCD) is a condition in which the body is unable to break down proteins and carbohydrates. People with this condition have trouble using biotin, a vitamin that helps turn certain carbohydrates and proteins into energy for the body. It affects one out of every 87,000 people. Signs of MCD usually begin within the first days of life, and include poor appetite, vomiting, tiredness, weak muscle tone, skin rash, and hair loss. Babies with holocarboxylase synthetase deficiency (MCD) need to take biotin supplements to replace the natural biotin that is not working correctly. The supplements will keep the baby from experiencing any of the earlier listed symptoms, and may also reverse any symptoms that have already appeared. With biotin supplements, people with MCD can live normal, healthy lives. Many babies are screened to see if they may be affected by MCD at birth, but the conditions included in newborn screening vary by state by state. For more information, visit Baby's First Test.

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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

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The terms "Holocarboxylase synthetase deficiency" returned 0 free, full-text review articles on human participants.

 
 
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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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