ALLMedicine™ Inborn Errors Of Metabolism Center

Sep 17th, 2020 - Patients diagnosed with inborn errors of metabolism (IBEM) often present with compromised bone health leading to low bone density, bone pain, fractures, and short stature. Dual-energy X-ray absorptiometry (DXA) is the current gold standard for cli...

Sep 3rd, 2020 - The objective of our study was to evaluate the frequency of treatable inborn errors of metabolism (IEM) in a clinical sample of Mexican children and adolescents with neurodevelopmental disorders (NDD). Amino acids and acylcarnitines in blood sampl...

Aug 30th, 2020 - Neonatal cholestasis is characterized by conjugated hyperbilirubinemia in the newborn and young infant and is a sign common to over 100 hepatobiliary and/or metabolic disorders. A timely evaluation for its etiology is critical in order to quickly ...

Aug 25th, 2020 - Long-chain fatty acid oxidation disorders (LC-FAODs) represent a group of rare inborn errors of metabolism characterized by acute crises of energy metabolism and severe energy deficiency. Clinical manifestations include rhabdomyolysis, liver dysfu...

Aug 25th, 2020 - Ketogenic diets (KDs) are used to treat epilepsies resistant to pharmacotherapy or some inborn errors of metabolism. For prolonged anesthesia, use of balanced electrolyte solutions (BESs) supplemented with 0.5% glucose has been advocated to mainta...

Feb 25th, 2019 - Since the first successful umbilical cord blood transplant in 1988, it has been estimated that more than 35,000 transplants have been performed in children and adults for the correction of inborn errors of metabolism, hematopoietic malignancies, a...

Feb 20th, 2019 - Since the first successful umbilical cord blood transplant in 1988, it has been estimated that more than 35,000 transplants have been performed in children and adults for the correction of inborn errors of metabolism, hematopoietic malignancies, a.

Mar 15th, 2018 - Organic acid analysis detects accumulation of organic acids in urine and other body fluids and is a crucial first-tier laboratory test for a broad spectrum of inborn errors of metabolism. It is also frequently ordered as follow-up for a positive n...

Apr 5th, 2012 - Biochemical genetic testing and newborn screening are essential laboratory services for the screening, detection, diagnosis, and monitoring of inborn errors of metabolism or inherited metabolic disorders. Under the Clinical Laboratory Improvement ...

Jul 3rd, 2009 - Almost all newborns in the US are screened at birth for multiple inborn errors of metabolism using tandem mass spectrometry. Screening tests are designed to be sufficiently sensitive so that cases are not missed. The NACB recognized a need for sta...

Sep 17th, 2020 - Patients diagnosed with inborn errors of metabolism (IBEM) often present with compromised bone health leading to low bone density, bone pain, fractures, and short stature. Dual-energy X-ray absorptiometry (DXA) is the current gold standard for cli...

Sep 3rd, 2020 - The objective of our study was to evaluate the frequency of treatable inborn errors of metabolism (IEM) in a clinical sample of Mexican children and adolescents with neurodevelopmental disorders (NDD). Amino acids and acylcarnitines in blood sampl...

Aug 30th, 2020 - Neonatal cholestasis is characterized by conjugated hyperbilirubinemia in the newborn and young infant and is a sign common to over 100 hepatobiliary and/or metabolic disorders. A timely evaluation for its etiology is critical in order to quickly ...

Aug 25th, 2020 - Long-chain fatty acid oxidation disorders (LC-FAODs) represent a group of rare inborn errors of metabolism characterized by acute crises of energy metabolism and severe energy deficiency. Clinical manifestations include rhabdomyolysis, liver dysfu...

Aug 25th, 2020 - Ketogenic diets (KDs) are used to treat epilepsies resistant to pharmacotherapy or some inborn errors of metabolism. For prolonged anesthesia, use of balanced electrolyte solutions (BESs) supplemented with 0.5% glucose has been advocated to mainta...

Apr 8th, 2015 - A new clinical report from the American Academy of Pediatrics (AAP) makes recommendations regarding the clinical genetics diagnostic approach for children with intellectual disability (ID) or global developmental delays (GDDs). Chromosome microarr.

Sep 6th, 2013 - Action Points The causes of disease, its subtypes, and risk factors present at the time a child is diagnosed with hypertrophic cardiomyopathy can help predict the likelihood of death or need for heart transplantation. Note that the worst prognosis...

Oct 19th, 2006 - Action Points Explain to parents who ask that dilated cardiomyopathy in infants and children is most often idiopathic. In 34%, the etiology is myocarditis and neuromuscular disorders as well as familial disease, inborn errors of metabolism, and ma...