Lessons From a Case Study of an Infant With Primary Carnitine Deficiency
A team of physicians presented a case study of an infant diagnosed with primary carnitine deficiency, a long chain fatty acid oxidation disorder.
LCFAOD Insights
The Relationship Between Inborn Errors of Metabolism and Pediatric Dental Disorders
We shine a spotlight on a lesser-known implication of inborn errors of metabolism: dental effects that require treatment by a dentist.
The Challenges of Living With a Fatty Acid Oxidation Disorder
Patients with fatty acid oxidation disorders often suffer on multiple fronts due to the largely invisible nature of the disease.
AATD Insights, CAD Insights, DMD Insights, Insights, LAL-D Insights, LCFAOD Insights, MG Insights, MTC Insights, SCD Insights
The Far-Reaching Impact of Innovative Clinical Trial Designs in Rare Disease
We examine the lasting impact of innovative clinical trial designs for rare diseases on other clinical experiments.
Ocular Manifestations Prevalent in LCHAD Deficiency
Current estimates suggest that about half of patients with long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency may suffer from retinopathy.
New Insights Into the Management of Carnitine-Acylcarnitine Translocase Deficiency
Until recently, only 68 cases of CACTD had been reported in the literature. This number increased to 87 with a recent publication by Ryder et al.
How Knowledge of Fatty Acid Oxidation Guides Treatment of LCFAOD
How does our comprehension of fatty acid oxidation impact the management of long chain fatty acid oxidation disorder?
Reviewing the Benefits of Triheptanoin in Long Chain Fatty Acid Oxidation Disorder
Triheptanoin is clinically promising for LCFAOD, although challenges remain in quantifying its effects as a reliable biochemical marker.
Current Approaches to Treating Long Chain Fatty Acid Oxidation Disorder
Long chain fatty acid oxidation disorder (LCFAOD) is a rare and life-threatening disease that is inherited in an autosomal recessive manner. It impairs the body’s production of energy, which leads to chronic energy insufficiency and injury to the organs that depend on it. Although LCFAOD is screened for in newborns, current management strategies still too…
Carrier Screening for Autosomal Recessive and X-Linked Conditions
A study published in Genetics In Medicine sought to develop and answer a series of questions regarding the process of screening for carriers of a disease.
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