HOME >> MEDICINE >> NEWS
Metabolic disorder not well-suited for inclusion in newborn screening programs

A metabolic disorder that can lead to developmental delay and other problems is more common than previously assumed, but does not meet major criteria for inclusion in newborn screening programs at this time, according to a study in the August 23/30 issue of JAMA.

Short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) is a condition in which the body cannot oxidize fatty acids because an enzyme is either missing or not functioning correctly. The clinical signs and symptoms of SCADD include developmental delay, hypoglycemia (low blood sugar levels), and epilepsy, according to background information in the article. It is an autosomal recessive disorder, which means the gene defect for SCADD only emerges when it is passed on to a child from both parents who carry the faulty gene. Screening for SCADD is included in expanded newborn screening programs in most U.S. and Australian states.

Bianca T. van Maldegem, M.D., of the University of Amsterdam, the Netherlands, and colleagues conducted a retrospective study involving 31 Dutch SCADD patients diagnosed between January 1987 and January 2006, and eight SCADD relatives. The focus of the study was to describe the genetic, biochemical, and clinical characteristics of SCADD patients and their relatives, and to explore the relation of genotype (the genetic constitution) to phenotype (the expressed features).

The researchers calculated a birth-prevalence of at least 1:50,000. "Most patients presented before the age of three years, with non-specific, generally uncomplicated, and often transient symptoms," they write. "Developmental delay, epilepsy, behavioral disturbances, and hypoglycemia were the most frequently reported symptoms."

The study did not reveal an association between the genotype and the clinical features in SCADD.

"Because SCADD does not meet major newborn screening criteria, it is not suited for inclusion in newborn screening programs at this time," t
'"/>

Contact: Bianca T. van Maldegem
b.t.vanmaldegem@amc.uva.nl
JAMA and Archives Journals
22-Aug-2006


Page: 1 2

Related medicine news :

1. Metabolic study in mice could lead to good cholesterol boosters
2. Metabolic syndrome points to heart health
3. Metabolic syndrome significantly boosts risk of heart failure in middle age
4. Metabolic acidosis associated with an increased mortality rate
5. Metabolic syndrome identified as risk factor for kidney-pancreas transplant patients
6. Metabolic syndrome prevalent in heart attack patients
7. Metabolic side effects of antipsychotics are known, but rarely monitored
8. A broader look at cardiac CTA images often finds diseases/disorders beyond the heart
9. Grandparents, older adults encouraged to seek help for a sleep disorder
10. Electrical implant steadies balance disorder in animals
11. Program announced to improve care in developing areas for patients with blood disorders

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:10/12/2017)... ... October 12, 2017 , ... The company has developed ... consumer and regulatory authorities worldwide. From Children’s to Adults 50+, every formula has ... highest standard. , These products are also: Gluten Free, Non-GMO, Vegan, Soy ...
(Date:10/12/2017)... ... 2017 , ... Asante, a nationally recognized health system in ... existing home health joint venture through an agreement, effective October 1, 2017, to ... home health company with Asante, delivering clinically integrated care, for the past eight ...
(Date:10/12/2017)... ... October 12, 2017 , ... HMP , a leader in healthcare events ... Magazine Eddie Digital Award for ‘Best B-to-B Healthcare Website.’ Winners were announced during the ... The annual award competition recognizes editorial and design excellence across a range of sectors. ...
(Date:10/12/2017)... ... October 12, 2017 , ... Women-owned ... Michigan’s 2017 Best and Brightest in Wellness® by Best and Brightest. OnSite Wellness ... on Friday, Oct. 20 from 7:30 a.m. to 2 p.m. at the Henry ...
(Date:10/12/2017)... ... October 12, 2017 , ... Vohra Chief Medical Officer ... physician colleagues, skilled nursing facility medical directors and other clinicians at various events ... Care." , "At many of these conferences we get to educate other physicians, ...
Breaking Medicine News(10 mins):
(Date:10/2/2017)... Denmark , Oct. 2, 2017 The Rebound ... in the struggle to reverse the tide of prescription drug ... for regulating their medicine intake and stepping down their dosage ... set to launch in December 2017; the first 100,000 people ... Learn more at http://www.rebound-solution.com/ ...
(Date:9/25/2017)...   Montrium , an industry leader in ... IQPC Trial Master Files & Inspection Readiness Conference ... Clinical Services has selected eTMF Connect ... EastHORN, a leading European contract research organization (CRO), ... to enable greater collaboration with sponsors, improve compliance ...
(Date:9/19/2017)... Mich. , Sept. 19, 2017 HistoSonics, Inc., a venture-backed medical device company ... destruction of targeted tissues, announced three leadership team developments today:   ... PhD ... ... Veteran medical device executive Josh ...
Breaking Medicine Technology:
Cached News: