Increased detection of primary carnitine deficiency through second-tier newborn genetic screening
نویسندگان
چکیده
منابع مشابه
Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry.
The introduction of tandem mass spectrometry to newborn screening has substantially expanded our ability to diagnose metabolic diseases in the newborn period. We report the first case of neonatal carnitine palmitoyltransferase deficiency II detected by expanded newborn screening with tandem mass spectrometry. The neonate presented with dysmorphic facial features, structural malformations, renal...
متن کاملDisorders of the carnitine cycle and detection by newborn screening.
Carnitine is necessary for transport of long-chain fatty acids into mitochondria, to enter the beta-oxidation cycle. Four carnitine cycle defects have been described. The carnitine transporter mediates carnitine transport across the plasma membrane. Symptoms include hypoketotic hypoglycaemia and cardiomyopathy. Some affected subjects are asymptomatic. Newborn screening detects very low levels o...
متن کاملPrimary Carnitine Deficiency and Cardiomyopathy
Carnitine is essential for the transfer of long-chain fatty acids from the cytosol into mitochondria for subsequent β-oxidation. A lack of carnitine results in impaired energy production from long-chain fatty acids, especially during periods of fasting or stress. Primary carnitine deficiency (PCD) is an autosomal recessive disorder of mitochondrial β-oxidation resulting from defective carnitine...
متن کاملExpanded newborn screening for detection of vitamin B12 deficiency.
useful addition to the recommendation made in the Institute of Medicine report that journals require sex-specific analyses for publication. However, if the assertion that a coverage requirement is the “best way” to ensure adequately powered tests of men and women implies that a coverage requirement will be more effective than a publication requirement, I would disagree. In relation to a publica...
متن کاملImpact of second-tier testing on the effectiveness of newborn screening.
The goal of newborn screening (NBS) for inherited disorders of metabolism is the early detection and confirmation of disease, thus enabling early medical intervention, treatment, and improved outcomes (1 ). Important characteristics of a screening method include analytical specificity and sensitivity, coupled with rapid, high throughput and timely reporting of abnormal results. Routine primary ...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2021
ISSN: 1750-1172
DOI: 10.1186/s13023-021-01785-6