ReviewJournal of inherited metabolic disease2013
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.
Review in Journal of inherited metabolic disease, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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Who cites it
53 citing papers in PubMed, 106 citations in OpenAlex.
- Integrating pharmacovigilance signals with real-world validation: a study on neurological events associated with PCSK9 inhibitors.Frontiers in medicine · 2026Article
- Functional characterisation of PREL-1 and PREL-3 proteins as putative intramitochondrial phospholipid transporters governing homeostasis and organismal health inFrontiers in molecular biosciences · 2026Article
- Lipidomic Signatures in Pediatric Metabolic Disorders.Metabolites · 2025Review
- Monitoring phospholipid dynamics in vivo with a fluorescent dye octadecyl rhodamine B.Cell structure and function · 2025Article
- Altered Lipid Metabolism in CNS Demyelination and Remyelination Are Key Elements Driving Progressive MS.International journal of molecular sciences · 2025Review
- A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback.Journal of inherited metabolic disease · 2025Review
- Insights on Natural Membrane Characterization for the Rational Design of Biomimetic Drug Delivery Systems.Pharmaceutics · 2025Review
- Identification of gangliosides and ceramides as biomarkers for mucopolysaccharidosis type II (hunter syndrome) through untargeted lipidomic analysis.Metabolomics : Official journal of the Metabolomic Society · 2025Article
- Structural basis for catalysis and selectivity of phospholipid synthesis by eukaryotic choline-phosphotransferase.Nature communications · 2025Article
- PHARC syndrome: an overview.Orphanet journal of rare diseases · 2024Review
- Fluorescent Solvatochromic Probes for Long-Term Imaging of Lipid Order in Living Cells.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Human Cerebrospinal Fluid Sample Preparation and Annotation for Integrated Lipidomics and Metabolomics Profiling Studies.Molecular neurobiology · 2024Article
- LPGAT1 controls MEGDEL syndrome by coupling phosphatidylglycerol remodeling with mitochondrial transport.Cell reports · 2023Article
- Whole-exome sequencing prioritizes candidate genes for hereditary cataract in the Emory mouse mutant.G3 (Bethesda, Md.) · 2023Article
- Membrane Lipid Reshaping Underlies Oxidative Stress Sensing by the Mitochondrial Proteins UCP1 and ANT1.Antioxidants (Basel, Switzerland) · 2022Article
- Key signaling networks are dysregulated in patients with the adipose tissue disorder, lipedema.International journal of obesity (2005) · 2022Article
- Overview of myelin, major myelin lipids, and myelin-associated proteins.Frontiers in chemistry · 2022Review
- Profiling of fatty acid metabolism in the dorsal root ganglion after peripheral nerve injury.Frontiers in pain research (Lausanne, Switzerland) · 2022Article
- Article
- Phospholipids: Identification and Implication in Muscle Pathophysiology.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We wish to delineate a novel, and rapidly expanding, group of inborn errors of metabolism with neurological/muscular presentations: the defects in phospholipids, sphingolipids and long chain fatty acids biosynthesis. At least 14 disorders have been described so far. Clinical presentations are diverse but can be divided into (1) diseases of the central nervous system; (2) peripheral neuropathies; and (3) muscular/cardiac presentations. (1) Leukodystrophy and/or iron deposits in basal ganglia is a common feature of phospholipase A2 deficiency, fatty acid hydroxylase deficiency, and pantothenate kinase-associated neurodegeneration. Infantile epilepsy has been reported in GM3 synthetase deficiency. Spastic quadriplegia with ichthyosis and intellectual disability are the presenting signs of the elongase 4 deficiency and the Sjogren-Larsson syndrome caused by fatty aldehyde dehydrogenase deficiency. Spastic paraplegia and muscle wasting are also seen in patients with mutations in the neuropathy target esterase gene. (2) Peripheral neuropathy is a prominent feature in PHARC syndrome due to α/β-hydrolase 12 deficiency, and in hereditary sensory autonomic neuropathy type I due to serine palmitoyl-CoA transferase deficiency. (3) Muscular/cardiac presentations include recurrent myoglobinuria in phosphatidate phosphatase 1 (Lipin1) deficiency; cardiomyopathy and multivisceral involvement in Barth syndrome secondary to tafazzin mutations; congenital muscular dystrophy due to choline kinase deficiency, Sengers syndrome due to acylglycerol kinase deficiency and Chanarin Dorfman syndrome due to α/β- hydrolase 5 deficiency. These synthesis defects of complex lipid molecules stand at the frontier between classical inborn errors of metabolism and other genetic diseases involving the metabolism of structural proteins.
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