Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate-Generating Antibiotics Contributed to False C5-Carnitine Positivity in a Chinese Population.
Mol Genet Genomic Med
November 2024
Neonatal Screening Center, Xuzhou Maternity and Child Health Care Hospital, Xuzhou, Jiangsu, China.
Background: Newborn screening (NBS) for isovaleric acidemia (IVA) is implemented via tandem mass spectrometry (MS/MS), but false-positive results are still common. In addition, NBS for IVA is limited by a lack of suitable biomarkers, especially after the use of pivaloylester-containing antibiotics.
Methods: We conducted a retrospective cohort study to explore the clinical correlation between antibiotic administration and false-positive results for isovalerylcarnitine (C5).
Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns.
J Inherit Metab Dis
January 2025
National Newborn Screening Program, Ministry of Health, Tel-HaShomer, Ramat-Gan, Israel.
Article Synopsis
- * Out of 412 newborns flagged positive for IVA in a large screening in Israel, 371 were false positives, and only 38 confirmedIVA—with 32% being symptomatic and 68% asymptomatic, many of whom have a specific mild variant.
- * The study introduced a new screening algorithm that better distinguishes between symptomatic and asymptomatic cases, aiming to reduce unnecessary treatment and focus on those at higher risk for severe outcomes.
Amyloid-like Aggregation Propensities of Metabolites- Homogentisic Acid, N-Acetyl Aspartic Acid and Isovaleric Acid.
Chembiochem
December 2024
Department of Chemistry, Indrashil University, Kadi, Mehsana, Gujarat, India.
The transformation of metabolites into amyloidogenic aggregates represent an intriguing dimension in the pathophysiology of metabolic disorders, including alkaptonuria, canavan disease, and isovaleric acidemia. Central to this phenomenon are the metabolites homogentisic acid (HA), N-acetyl aspartic acid (NAA), and isovaleric acid (IVA), which we found, weave an intricate network of self-assembled structures. Leveraging an array of microscopy techniques, we traced the morphological behavior of these assemblies that exhibit concentration and time-dependent morphological transitions from isolated globules to clustered aggregates.
View Article and Find Full Text PDFAcute Metabolic Decompensation of Isovaleric Acidemia Presenting as Persistent Metabolic Acidosis in a Middle-Aged Man: A Case Report.
Cureus
August 2024
Internal Medicine, York and Scarborough Teaching Hospitals NHS Foundation Trust, Scarborough, GBR.
Isovaleric acidemia is a rare autosomal recessive inborn error of metabolism that affects the breakdown of the essential amino acid leucine. Acute metabolic decompensation is often triggered by stressors such as surgery, concurrent illness, excessive protein intake, or dehydration. This can lead to a catabolic state with increased endogenous protein turnover, posing a risk of potentially life-threatening crises due to the accumulation of toxic metabolites from incomplete leucine breakdown.
View Article and Find Full Text PDFNewborn screening for isovaleric acidemia: A case report of a Chinese patient with novel variants.
Mol Genet Metab Rep
June 2024
Neonatal Disease Screening Center, The Affiliated Xuzhou Maternity and Child Health Care Hospital of Xuzhou Medical University, Xuzhou, Jiangsu, China.
Isovaleric acidemia (IVA) is a rare autosomal recessive disorder that manifests as a deficiency of isovaleryl-CoA dehydrogenase (IVD), a key enzyme in leucine metabolism. The clinical presentations associated with IVD deficiency are variable and include feeding intolerance, vomiting, metabolic acidosis, ketonemia, "sweaty feet" odor, lethargy, coma and even death. Tandem mass spectrometry (MS/MS) and gas chromatography-mass spectrometry (GC/MS) methods were used to perform organic acid analysis of blood and urine samples from IVA patients, and the genetic analysis included next generation sequencing (NGS) and Sanger sequencing of the gene.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!