About 2,083 results

ALLMedicine™ Inborn Errors Of Metabolism Center

Research & Reviews  741 results

A retrospective analysis of MS/MS screening for IEM in high-risk areas.
BMC Medical Genomics; He X, Kuang J et. al.

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 ...

A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal comp...
American Journal of Medical Genetics. Part A; Kiss S, Christodoulou J et. al.

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 ...

Ammonia and nutritional therapy in the critically ill: when to worry, when to test and ...
Current Opinion in Clinical Nutrition and Metabolic Care; Redant S, Warrillow S et. al.

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...

Competitive, multi-objective and compartmented Flux Balance Analysis for addressing tis...
Journal of Inherited Metabolic Disease; Liu Y, Westerhoff HV

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 ...

The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism

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...

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Guidelines  4 results

ACOG Committee Opinion No. 771: Umbilical Cord Blood Banking.
Obstetrics and Gynecology;

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...

Laboratory analysis of organic acids, 2018 update: a technical standard of the American...
Genetics in Medicine : Official Journal of the American C... Gallagher RC, Pollard L et. al.

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...

Good laboratory practices for biochemical genetic testing and newborn screening for inh...
MMWR. Recommendations and Reports : Morbidity and Mortali...

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 ...

National academy of clinical biochemistry laboratory medicine practice guidelines: foll...
Clinical Chemistry; Dietzen DJ, Rinaldo P et. al.

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...

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Drugs  19 results see all →

Clinicaltrials.gov  44 results

Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol

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...

The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism

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...

Expressive Writing in GVHD

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...

Dried Blood Spot Testing for At Home Health

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 ...

Biomarker for Creatine Deficiency Syndromes (BioCDS)

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...

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News  21 results

Move Over Supplements, Here Come Medical Foods

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...

Rising microbiome investigator: Ting-Chin David Shen, MD, PhD

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.

Kids may have higher risk of death long after allo-HSCT
HT Staff

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.

Decades Later, Mortality for Childhood Transplant Recipients Remains High

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...

Allele-matching in cord blood transplant yields better survival
Thomas R. Collins

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.

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Patient Education  4 results see all →