Molybdenum cofactor deficiency

Common Name(s)

Molybdenum cofactor deficiency

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Molybdenum cofactor 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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Molybdenum cofactor 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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 "Molybdenum cofactor deficiency" returned 14 free, full-text research articles on human participants. First 3 results:

Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.
 

Author(s): Eduard Alexander Struys, Benjamin Nota, Abdellatif Bakkali, Saad Al Shahwan, Gajja Sophi Salomons, Brahim Tabarki

Journal: Pediatrics. 2012 Dec;130(6):e1716-9.

 

α-Amino adipic semialdehyde (α-AASA) accumulates in body fluids from patients with pyridoxine-dependent epilepsy because of mutations in antiquitin (ALDH7A1) and serves as the biomarker for this condition. We have recently found that the urinary excretion of α-AASA was also increased ...

Last Updated: 3 Dec 2012

Go To URL
Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP.
 

Author(s): Marrit M Hitzert, Arend F Bos, Klasien A Bergman, Alex Veldman, Guenter Schwarz, José Angel Santamaria-Araujo, Rebecca Heiner-Fokkema, Deborah A Sival, Roelineke J Lunsing, Sita Arjune, Jos G W Kosterink, Francjan J van Spronsen

Journal: Pediatrics. 2012 Oct;130(4):e1005-10.

 

Molybdenum cofactor deficiency (MoCD) is a lethal autosomal recessive inborn error of metabolism with devastating neurologic manifestations. Currently, experimental treatment with cyclic pyranopterin monophosphate (cPMP) is available for patients with MoCD type A caused by a mutation ...

Last Updated: 4 Oct 2012

Go To URL
Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency.
 

Author(s): Sintha D Sie, Rogier C J de Jonge, Henk J Blom, Margot F Mulder, Jochen Reiss, R J Vermeulen, Cacha M P C D Peeters-Scholte

Journal: J. Inherit. Metab. Dis.. 2010 Dec;33 Suppl 3():S401-7.

 

Molybdenum cofactor (Moco) deficiency is a rare neurometabolic disorder, characterized by neurological impairment and refractive seizures, due to toxic accumulation of sulfite in the brain. Earlier it was suggested that in Moco-deficient humans maternal clearance of neurotoxic metabolites ...

Last Updated: 30 Aug 2013

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Molybdenum cofactor deficiency" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Safety & Efficacy Study of ALXN1101 in Pediatric Patients With MoCD Type A Currently Treated With rcPMP
 

Status: Recruiting

Condition Summary: Molybdenum Cofactor Deficiency, Type A

 

Last Updated: 9 Oct 2014

Go to URL
A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies
 

Status: Recruiting

Condition Summary: Molybdenum Cofactor Deficiency; Isolated Sulfite Oxidase Deficiency

 

Last Updated: 9 Oct 2014

Go to URL