LCFAOD News Briefs

Psychosocial Factors Associated With Impaired Quality of Life in LCFAOD

Psychosocial factors, including higher anxiety levels and behavioral problems, significantly contributed to poorer quality of life (QoL) in children with inborn errors of metabolism such as long chain fatty acid oxidation disorder (LCFAOD). Diseases involving emergency restricted diets, higher parental anxiety, and diagnoses at younger ages also decreased QoL scores in these children, as published…

A Rare Case of VLCAD Deficiency With Severe Concurrent Conditions

Qatomah and colleagues presented a case study of a male patient with severe reversible acute rhabdomyolysis with concurrent hepatitis C infection and very long chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency, which is a type of long chain fatty acid oxidation disorder (LCFAOD), as published in the Journal of Medical Case Reports. Rhabdomyolysis is an adverse…

Newborn Screening May Improve VLCAD Deficiency Treatment

Data from the Swedish newborn screening (NBS) program suggested that patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency who were diagnosed through the program had less severe phenotypes than those clinically diagnosed. VLCAD deficiency is a type of long chain fatty acid oxidation disorder (LCFAOD). “There is a clear difference between the clinically diagnosed patients…

lipoprotein

LCHAD Deficiency May Be Associated With Acute Fatty Liver of Pregnancy

Researchers found a potential association between long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) deficiency and acute fatty liver of pregnancy (AFLP), as published in the American Journal of Obstetrics and Gynecology. Previous reports have identified LCHAD deficiency, a type of long chain fatty acid oxidation disorder (LCFAOD), as a putative cause of AFLP, though the nature of the…

Novel Therapeutic Strategies Target Metabolic Features in LCFAOD

Researchers discovered that long-chain fatty acid oxidation and respiratory complex 1 deficiencies can differentiate Barth syndrome from idiopathic pediatric cardiomyopathy, as published in the Journal of Inherited Metabolic Disease. Barth syndrome and idiopathic pediatric cardiomyopathy are driven by metabolic defects such as long chain fatty acid oxidation disorder. “[Barth syndrome] patients develop early onset cardiomyopathy…

Clear Panel Design Criteria Can Ensure Accuracy of LCFAOD Diagnosis

Researchers identified guidelines-consistent panels of 37 and 74 genetic conditions following evidence-based analyses of criteria, including long chain fatty acid oxidation disorders (LCFAODs) such as primary carnitine deficiency, carnitine palmitoyltransferase 2 deficiency, and very long-chain acyl-CoA dehydrogenase deficiency, as published in Genetics in Medicine. Other guideline-consistent conditions identified were sickle cell disease, cystic fibrosis (CF),…

Dietary Methionine Levels Could Affect Nutrient Metabolism in LCFAOD

Scientists discovered that blunt snout bream may have implications for human diseases that affect nutrient metabolism or muscles, such as long chain fatty acid oxidation disorder (LCFAOD), as published in Scientific Reports. They conducted a study to investigate the effects of dietary methionine (Met) levels on the nutrient metabolism of blunt snout bream (Megalobrama ambylcephala),…

New Insights Could Improve Understanding of TFP Deficiency Phenotypes

The clinical characteristics and genetic mutations of 2 patients with mitochondrial trifunctional protein (TFP) deficiency were published in the journal Molecular Medicine Reports. TFP deficiency is 1 of 6 types of long chain fatty acid oxidation disorders (LCFAODs) and can be caused by mutations in the HADHA or HADHB genes. The cases presented here have…

Newborn Screening With Genetic Testing Can Improve Diagnostic Efficiency in PCD

Researchers discovered that newborn screening (NBS) combined with genetic testing is critical to improving the screening efficiency of patients with primary carnitine deficiency (PCD), according to a study published in the Orphanet Journal of Rare Diseases. “PCD is an autosomal recessive disorder of carnitine transportation that leads to impaired fatty acid oxidation,” Lin et al…

NeoSeq Genomic Screening Test Shows Significant Advantages for Newborns

Researchers developed a new genomic screening test for newborn screening called NeoSeq. “It can detect most inborn errors of metabolism, reduce the rate of false positive results, shorten the porting cycles, and reduce the screening cost,” Wang et al said in a study published in the Orphanet Journal of Rare Diseases. The detection rates of…

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