LCFAOD News Briefs

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).…

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…

LCFAOD

The Comorbidities of LCFAOD

Long chain fatty acid oxidation disorders (LCFAOD) are a group of rare, genetic, metabolic disorders characterized by impaired fat metabolism resulting in acute crises of energy production and chronic energy deficiency. The clinical presentation of the diseases varies greatly from one patient to the next; comorbidities include hypoketotic hypoglycemia, hepatic dysfunction, cardiomyopathy, rhabdomyolysis, skeletal myopathy,…

Insights Into the Cardiac Consequences of FAO Deficiency

Long-chain fatty acid β-oxidation (FAO) deficiency disturbs amino acid metabolism and interferes with cardiac metabolic signaling in long-chain acyl-CoA dehydrogenase (LCAD) knockout (KO) mice, researchers reported. The LCAD KO mouse mimics prominent symptoms of human long chain fatty acid oxidation disorders (LCFAOD), such as very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) and carnitine palmitoyltransferase 2 (CPT2) deficiency.…

AATD differential diagnosis

A Case of LCHAD Presenting as Retinitis Pigmentosa

Researchers from Spain presented the case of a 4-year-old patient who was diagnosed with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, a type of long-chain fatty acid oxidation disorder (LCFAOD), at birth through newborn screening. Their report was published in Archivos de la Sociedad Española de Oftalmología. The disease clinically started as pigmentary retinosis. However, there was…

sma differential diagnosis

Case Report: Novel Gene Variant Causes a Type of LCFAOD

Researchers identified a novel mutation in the ACADVL gene causing very long-chain acyl-coenzyme-A dehydrogenase (VLCAD) deficiency, a type of long-chain fatty acid oxidation disorder (LCFAOD), in a baby from Sri Lanka. They presented their finding in a case report published in the Journal of Medical Case Reports. The baby developed bronchopneumonia with heart failure secondary…

PAH guidelines

Reneo Enrolling, Dosing Patients in 2 Long-Chain Fatty Acid Oxidation Disorder Studies

Reneo Pharmaceuticals has enrolled 18 patients in an observational study (FORWARD) for patients with long-chain fatty acid oxidation disorder (LCFAOD) and has dosed 20 patients who have the disease in the open-label phase 1b REN001-102 trial, the company announced. “We . . . made substantial progress in our long-chain fatty acid oxidation disorders studies” in…

NORD Panel

NORD Panel: Significant Breakthroughs Occurring in Rare Disease Treatment

A panel of experts at the National Organization for Rare Disorders (NORD) virtual Patient and Family Forum outlined what they see as the most impactful breakthroughs in the field of rare diseases, ranging from the completion of the human genome and the availability of next-generation sequencing in the clinic to genome editing and its use…

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