Newborn Screening Disorders

Common Name(s)

Newborn Screening Disorders

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Newborn Screening Disorders" for support, advocacy or research.

FOD Family Support Group

Our mission is to connect and network with FOD families and professionals around the world and to provide ongoing emotional and grief support, family stories, practical information about living with these disorders, and medical updates to inform families of new developments in screening, diagnosis, research and treatment. We offer an active facebook group and google Email List, as well as a National Family Conference every 2 years. We also raise funds to train new metabolic professionals and for FOD research. We are a 501c3 nonprofit - Tax ID # 83-0471342.

Last Updated: 29 Apr 2014

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Newborn Screening Disorders" for support, advocacy or research.

FOD Family Support Group

Our mission is to connect and network with FOD families and professionals around the world and to provide ongoing emotional and grief support, family stories, practical information about living with these disorders, and medical updates to inform families of new developments in screening, diagnosis, research and treatment. We offer an active facebook group and google Email List, as well as a National Family Conference every 2 years. We also raise funds to train new metabolic professionals and for FOD research. We are a 501c3 nonprofit - Tax ID # 83-0471342.

https://fodsupport.org/

Last Updated: 29 Apr 2014

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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 "Newborn Screening Disorders" returned 19 free, full-text research articles on human participants. First 3 results:

[Prevalence of disorders detected by newborn screening in Santa Catarina].
 

Author(s): Adriana Kleist Clark Nunes, Regiane Gutjahr Wachholz, Marina R M Rover, Liliete Canes Souza

Journal: Arq Bras Endocrinol Metabol. 2013 Jul;57(5):360-7.

 

To evaluate the prevalence of the diseases phenylketonuria (PKU), congenital hypothyroidism (CH), cystic fibrosis (CF), hemoglobinopathies (HB), and congenital adrenal hyperplasia (CAH), in the state of Santa Catarina, in order to delineate the local population profile for these diseases.

Last Updated: 30 Jul 2013

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Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.
 

Author(s): Susan E Waisbren, Yuval Landau, Jenna Wilson, Jerry Vockley

Journal: Dev Disabil Res Rev. 2013 Jun;17(3):260-8.

 

Mitochondrial fatty acid oxidation disorders include conditions in which the transport of activated acyl-Coenzyme A (CoA) into the mitochondria or utilization of these substrates is disrupted or blocked. This results in a deficit in the conversion of fat into energy. Most patients ...

Last Updated: 26 Jun 2013

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Dried blood spot quality control materials for newborn screening to detect lysosomal storage disorders.
 

Author(s): Víctor R De Jesús, Hui Zhou, Robert F Vogt

Journal: Clin. Chem.. 2013 Aug;59(8):1275-6.

 

Last Updated: 29 Jul 2013

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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 "Newborn Screening Disorders" returned 3 free, full-text review articles on human participants. First 3 results:

Newborn screening for lysosomal storage disorders and other neuronopathic conditions.
 

Author(s): Dietrich Matern, Devin Oglesbee, Silvia Tortorelli

Journal: Dev Disabil Res Rev. 2013 Jun;17(3):247-53.

 

Newborn screening (NBS) is a public health program aimed at identifying treatable conditions in presymptomatic newborns to avoid premature mortality, morbidity, and disabilities. Currently, every newborn in the Unites States is screened for at least 29 conditions where evidence suggests ...

Last Updated: 26 Jun 2013

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Newborn screening of lysosomal storage disorders.
 

Author(s): Deborah Marsden, Harvey Levy

Journal: Clin. Chem.. 2010 Jul;56(7):1071-9.

 

Newborn screening is a state-based public health program established as a means for the early detection and treatment of certain medical conditions to minimize developmental disability and mortality. The program was initiated more than 40 years ago to detect and prevent phenylketonuria. ...

Last Updated: 29 Jun 2010

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Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management.
 

Author(s): Prem S Shekhawat, Dietrich Matern, Arnold W Strauss

Journal: Pediatr. Res.. 2005 May;57(5 Pt 2):78R-86R.

 

Mitochondrial fatty acid oxidation disorders (FAOD) are recessively inherited errors of metabolism. Newborns with FAOD typically present with hypoketotic hypoglycemia, metabolic acidosis, hepatic failure, and cardiomyopathy. Late presentations include episodic myopathy, neuropathy, ...

Last Updated: 29 Apr 2005

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 16 Oct 2014

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Newborn Screening for Congenital Heart Disease
 

Status: Recruiting

Condition Summary: Congenital Heart Disease

 

Last Updated: 20 Aug 2012

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The Impact of Implementing a Universal Newborn Screening for Critical Congenital Heart Disease
 

Status: Recruiting

Condition Summary: Congenital Heart Disease

 

Last Updated: 6 Mar 2014

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