Junction: Cardiology

Reverse Vaccination: A New Process to Prevent Immune System From Attacking Medications

A research team discovered the use of “reverse vaccination,” a process that pre-exposes the body to medications to build immune tolerance to those therapies, according to a news release from the University of Buffalo.  One of the biggest obstacles in developing therapies that are effective against diseases such as Pompe disease and hemophilia A is…

Scientist

Elevated Oxidative Stress Hampers ERT Efficacy in Pompe Disease

Findings from an investigative study revealed that elevated oxidative stress levels in both mice and humans with Pompe disease impaired the ability of enzyme replacement therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA) to correct the causative enzyme deficiency. Correction of oxidative stress using antioxidants in addition to ERT in both mouse and human models…

Cerebral Malformations in an Adolescent With Infantile-Onset CPT II Deficiency

The case of an infantile-onset carnitine palmitoyltransferase 2 (CPT II)-deficient patient with cerebral malformations detected during his adolescent years was reported by Shelihan et al. To the best of their knowledge, the case recently published in JIMD Reports is the first of its kind to be described. CPT II deficiency is a type of long…

Lysosomal Acid Lipase Deficiency Testing

Genetic Testing Important for Symptomatic LCFAOD Patients of All Ages

Adolescents and adults with very long-chain acyl-coenzyme A dehydrogenase (VLCAD) and carnitine palmitoyltransferase II (CPT II) deficiencies report clinical signs that overlap with neuromuscular disorders. Next-generation sequencing analysis using a panel of 35 genes associated with long-chain fatty acid oxidation disorder (LCFAOD) or other conditions that cause abnormal plasma acylcarnitine profiles allowed the identification of…

Using an Acylcarnitine Ratio May Improve LCFAOD Diagnosis

The (C16+C18:1)/C2 acylcarnitine ratio in dried blood spots is more specific than long-chain acylcarnitine (C16 and C18:1) alone in diagnosing carnitine-acylcarnitine translocase (CACT) and carnitine palmitoyltransferase 2 (CPT 2) deficiencies, according to a new study published in the journal Clinical Biochemistry. CACT and CPT 2 are 2 types of long-chain fatty acid oxidative disorders (LCFAOD).…

Genetic research

New Pathogenic Pompe Disease Variants Identified

A new study published in Gene identified 55 different molecular pathogenic variants of Pompe disease in the Spanish population. Twelve of these had not previously been described, and they affected the function or expression of the acid α-glucosidase (GAA) protein, which is deficient in Pompe disease. “In this study, we describe the largest genetic characterization…

LCFAOD diagnosis

Newborn Testing Reveals Higher Incidence of Fatty Acid Disorders

An increased incidence of long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) was found after its addition to the expanded neonatal screening program (ENBS) of Czechia, according to a new study published in the journal Nutrients. LCHADD is a form of long chain fatty acid oxidation disorder (LCFAOD) and prior to ENBS, 12 children were identified with…

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