ALLMedicine™ Inborn Errors Of Metabolism Center

Mar 18th, 2023 - Inborn errors of metabolism (IEM) can lead to severe motor and neurological developmental disorders and even disability and death in children due to untimely treatment. In this study, we used tandem mass spectrometry (MS/MS) for primary screening ...

Mar 11th, 2023 - Mitochondrial respiratory chain disorders (MRC) are amongst the most common group of inborn errors of metabolism. MRC, of which complex I deficiency accounts for approximately a quarter, are very diverse, causing a wide range of clinical problems ...

Mar 10th, 2023 - Hyperammonaemia is almost always develops in patients with severe liver failure and this remains the commonest cause of elevated ammonia concentrations in the ICU. Nonhepatic hyperammonaemia in ICU presents diagnostic and management challenges for...

Mar 8th, 2023 - The inborn error of metabolism Phenylketonuria (PKU, OMIM 261600) is most often due to inactivation of phenylalanine hydroxylase (PAH), which converts phenylalanine (Phe) into tyrosine (Tyr). The reduced PAH activity increases blood concentration ...

Mar 3rd, 2023 - The biochemical perturbations in children with inborn errors of metabolism (IEM) may affect their immune response. As a result, this will not only increase risk for infection but also hamper their ability to develop protective immunity after vacci...

Feb 26th, 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 16th, 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 6th, 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 4th, 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...

Mar 3rd, 2023 - Women with inherited metabolic disorders are reaching child bearing age more often due to advances in early diagnosis and improved pediatric care. For many of these disorders, there is very little information in the literature to guide the counsel...

Mar 3rd, 2023 - The biochemical perturbations in children with inborn errors of metabolism (IEM) may affect their immune response. As a result, this will not only increase risk for infection but also hamper their ability to develop protective immunity after vacci...

Feb 27th, 2023 - Graft-versus-host-disease (GVHD) is a disease phenomenon that occurs when immune cells of the donor recognize and attack healthy tissue within the transplant recipient, or host. It is ultimately the result of the same immunological mechanisms that...

Feb 16th, 2023 - Remote phlebotomy services have long been an option for remote communities, yet through the pandemic there has been an apparent decline in these facilities likely driven by a lack of financial incentive for community laboratories; outpatient test ...

Feb 13th, 2023 - The Creatine Deficiency Syndromes (CDS) are a group of inborn errors of metabolism which interrupt the biosynthesis or transportation of creatine. Individuals with CDS classically present neurological symptoms (seizures, movement disorders and myo...

Jul 1st, 2020 - As the US Food and Drug Administration (FDA) focuses on other issues, companies, both big and small, are looking to boost physician and consumer interest in their "medical foods" — products that fall somewhere between drugs and supplements and pro...

Oct 24th, 2018 - We spoke with Dr. Shen, instructor of medicine at the University of Pennsylvania and the recipient of the AGA Research Foundation’s 2016 Microbiome Junior Investigator Award, to learn about his passion for gut microbiome research.

Jul 30th, 2018 - Photo from UAB Smita Bhatia Children may have an increased risk of premature death decades after allogeneic hematopoietic stem cell transplant (allo-HSCT), according to a study published in JAMA Oncology. The leading causes of death in the patient.

Jul 27th, 2018 - Survivors of childhood leukemias and other serious hematologic diseases requiring allogeneic blood or marrow transplant (BMT) remained at elevated risk for death, even 25 years post-transplant, according to a retrospective cohort study. An analysi...

Jul 20th, 2017 - Matching down to the allele level in umbilical cord blood transplantation between unrelated donors results in greater overall survival for those with nonmalignant diseases, such as aplastic anemia, researchers found in a retrospective study publis.