scholarly journals The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening

2016 ◽  
pp. 53-58 ◽  
Author(s):  
Callum Wilson ◽  
Detlef Knoll ◽  
Mark de Hora ◽  
Campbell Kyle ◽  
Emma Glamuzina ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Newborn Screening ◽  
Fatty Acid Oxidation ◽  
Acid Oxidation ◽  
Fatty Acid Oxidation Disorders ◽  
Organic Acidemias

Clinical study of organic acidemias and fatty acid oxidation disorders detected in adults

2013 ◽  
Vol 53 (3) ◽  
pp. 191-195
Author(s):  
Kenji Yamada ◽  
Yuki Hasegawa ◽  
Yoko Yoshikawa ◽  
Tomoo Takahashi ◽  
Hironori Kobayashi ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Clinical Study ◽  
Fatty Acid Oxidation ◽  
Acid Oxidation ◽  
Fatty Acid Oxidation Disorders ◽  
Organic Acidemias

scholarly journals Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders

2021 ◽  
Author(s):  
Deborah Marsden ◽  
Camille L. Bedrosian ◽  
Jerry Vockley
Keyword(s):  
Fatty Acid ◽  
Newborn Screening ◽  
Fatty Acid Oxidation ◽  
The United States ◽  
Acid Oxidation ◽  
Inherited Disorders ◽  
Fatty Acid Oxidation Disorders ◽  
Medium Chain ◽  
The Impact ◽  
Long Chain

AbstractFatty acid oxidation disorders (FAODs) are potentially fatal inherited disorders for which management focuses on early disease detection and dietary intervention to reduce the impact of metabolic crises and associated spectrum of clinical symptoms. They can be divided functionally into long-chain (LC-FAODs) and medium-chain disorders (almost exclusively deficiency of medium-chain acyl–coenzyme A dehydrogenase). Newborn screening (NBS) allows prompt identification and management. FAOD detection rates have increased following the addition of FAODs to NBS programs in the United States and many developed countries. NBS-identified neonates with FAODs may remain asymptomatic with dietary management. Evidence from numerous studies suggests that NBS-identified patients have improved outcomes compared with clinically diagnosed patients, including reduced rates of symptomatic manifestations, neurodevelopmental impairment, and death. The limitations of NBS include the potential for false-negative and false-positive results, and the need for confirmatory testing. Although NBS alone does not predict the consequences of disease, outcomes, or management needs, subsequent genetic analyses may have predictive value. Genotyping can provide valuable information on the nature and frequency of pathogenic variants involved with FAODs and their association with specific phenotypes. Long-term follow-up to fully understand the clinical spectrum of NBS-identified patients and the effect of different management strategies is needed.

ESI–MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders

2007 ◽  
Vol 855 (1) ◽  
pp. 80-87 ◽  
Author(s):  
Hironori Kobayashi ◽  
Yuki Hasegawa ◽  
Mitsuru Endo ◽  
Jamiyan Purevsuren ◽  
Seiji Yamaguchi
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Acid Oxidation ◽  
Fatty Acid Oxidation Disorders ◽  
Esi Ms ◽  
Organic Acidemias
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