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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\u2010associated 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\u2010Larsson 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 \u03b1\/\u03b2\u2010hydrolase 12 deficiency, and in hereditary sensory autonomic neuropathy type I due to serine palmitoyl\u2010CoA 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 \u03b1\/\u03b2\u2010 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.<\/jats:p>","DOI":"10.1007\/s10545-012-9509-7","type":"journal-article","created":{"date-parts":[[2012,7,19]],"date-time":"2012-07-19T08:41:24Z","timestamp":1342687284000},"page":"411-425","source":"Crossref","is-referenced-by-count":105,"title":["Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases"],"prefix":"10.1002","volume":"36","author":[{"given":"F.","family":"Lamari","sequence":"first","affiliation":[{"name":"Neurometabolic Unit, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital AP\u2010HP &amp; University Pierre and Marie Curie Paris France"},{"name":"Department of Metabolic Biochemistry Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital, AP\u2010HP Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Mochel","sequence":"additional","affiliation":[{"name":"Neurometabolic Unit, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital AP\u2010HP &amp; University Pierre and Marie Curie Paris France"},{"name":"INSERM UMR S975, Brain and Spine Institute Hospital Piti\u00e9\u2010Salp\u00eatri\u00e8re Paris France"},{"name":"Department of Genetic Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital, AP\u2010HP Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Sedel","sequence":"additional","affiliation":[{"name":"Neurometabolic Unit, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital AP\u2010HP &amp; University Pierre and Marie Curie Paris France"},{"name":"Department of Neurology Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital, AP\u2010HP Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. 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