A. Aguilera-méndez, C. Álvarez-delgado, and D. Hernández-godinez, Hepatic Diseases Related to Triglyceride Metabolism, Mini-Reviews in Medicinal Chemistry, vol.13, issue.12, pp.1691-1700, 2013.
DOI : 10.2174/1389557511313120001

M. Akiyama, ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic conceptsa, Human Mutation, vol.283, issue.10, pp.1090-1096, 2010.
DOI : 10.1002/humu.21326

M. Aldahmesh, J. Mohamed, and H. Alkuraya, Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia, The American Journal of Human Genetics, vol.89, issue.6, pp.745-750, 2011.
DOI : 10.1016/j.ajhg.2011.10.011

T. Aleman, N. Soumittra, and A. Cideciyan, Mutations Cause an Autosomal Recessive Cone-Rod Dystrophy with Inner Retinopathy, Investigative Opthalmology & Visual Science, vol.50, issue.12, pp.5944-5954, 2009.
DOI : 10.1167/iovs.09-3982

A. Almeida, Y. Murakami, and D. Layton, Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency, Nature Medicine, vol.111, issue.7, pp.846-51, 2006.
DOI : 10.1038/nm1410

O. Attree, I. Olivos, and I. Okabe, The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase, Nature, vol.358, issue.6383, pp.239-281, 1992.
DOI : 10.1038/358239a0

H. Azzedine, A. Bolino, and T. Taieb, Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glaucoma, The American Journal of Human Genetics, vol.72, issue.5, pp.1141-1153, 2003.
DOI : 10.1086/375034

T. Balla, Phosphoinositides: Tiny Lipids With Giant Impact on Cell Regulation, Physiological Reviews, vol.93, issue.3, pp.1019-1137, 2013.
DOI : 10.1152/physrev.00028.2012

P. Barth, F. Valianpour, and V. Bowen, X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update, American Journal of Medical Genetics, vol.277, issue.4, pp.349-54, 2004.
DOI : 10.1002/ajmg.a.20660

R. Barone, C. Aiello, and V. Race, DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy, Annals of Neurology, vol.7, issue.4, pp.550-558, 2012.
DOI : 10.1002/ana.23632

K. Barwick, J. Wright, and S. Turki, Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy, The American Journal of Human Genetics, vol.91, issue.6, pp.1103-1110, 2012.
DOI : 10.1016/j.ajhg.2012.09.019
URL : http://doi.org/10.1016/j.ajhg.2012.09.019

J. Below, D. Earl, and K. Shively, Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia, The American Journal of Human Genetics, vol.92, issue.1, pp.137-180, 2013.
DOI : 10.1016/j.ajhg.2012.11.011

V. Berginer, G. Salen, and S. Shefer, Long-Term Treatment of Cerebrotendinous Xanthomatosis with Chenodeoxycholic Acid, New England Journal of Medicine, vol.311, issue.26, pp.1649-52, 1984.
DOI : 10.1056/NEJM198412273112601

S. Bielas, J. Silhavy, and F. Brancati, Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, 2009.

J. Mayr, T. Haack, and E. Graf, Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome, The American Journal of Human Genetics, vol.90, issue.2, pp.314-334, 2012.
DOI : 10.1016/j.ajhg.2011.12.005

A. Méneret, E. Wiame, and C. Marelli, A Serine Synthesis Defect Presenting With a Charcot-Marie-Tooth???Like Polyneuropathy, Archives of Neurology, vol.69, issue.7, pp.908-919, 2012.
DOI : 10.1001/archneurol.2011.1526

C. Michot, L. Hubert, and M. Brivet, LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood, Human Mutation, vol.31, issue.7, pp.1564-73, 2010.
DOI : 10.1002/humu.21282
URL : https://hal.archives-ouvertes.fr/hal-00552397

C. Mignot, D. Doummar, and M. I. , Type 2 Gaucher disease: 15 new cases and review of the literature, Brain and Development, vol.28, issue.1, pp.39-48, 2006.
DOI : 10.1016/j.braindev.2005.04.005

M. Millón, M. Delgado, and N. Azar, Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?, pp.65-72, 2011.
DOI : 10.1007/8904_2011_18

S. Mitsuhashi, A. Ohkuma, and B. Talim, A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis, The American Journal of Human Genetics, vol.88, issue.6, pp.845-51, 2011.
DOI : 10.1016/j.ajhg.2011.05.010

R. Molday, K. Zhang, and F. Quazi, The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration, Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, vol.1791, issue.7, pp.573-583, 2009.
DOI : 10.1016/j.bbalip.2009.02.004

R. Molday and K. Zhang, Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration, Progress in Lipid Research, vol.49, issue.4, pp.476-492, 2010.
DOI : 10.1016/j.plipres.2010.07.002

N. Morgan, S. Westaway, and J. Morton, PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron, Nature Genetics, vol.5, issue.7, pp.752-756, 2006.
DOI : 10.1038/ng1826

E. Muhammad, O. Reish, and Y. Ohno, Congenital myopathy is caused by mutation of HACD1, Human Molecular Genetics, vol.22, issue.25, pp.5229-5265, 2013.
DOI : 10.1093/hmg/ddt380

S. Murphy, D. Ernst, and Y. Wei, Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2, Neurology, vol.80, issue.23, pp.2106-2111, 2013.
DOI : 10.1212/WNL.0b013e318295d789

M. Nakano, E. Kelly, and C. Wiek, CYP4V2 in Bietti's Crystalline Dystrophy: Ocular Localization, Metabolism of ??-3-Polyunsaturated Fatty Acids, and Functional Deficit of the p.H331P Variant, Molecular Pharmacology, vol.82, issue.4, pp.679-86, 2012.
DOI : 10.1124/mol.112.080085

G. Narkis, R. Ofir, and D. Landau, Lethal Contractural Syndrome Type 3 (LCCS3) Is Caused by a Mutation in PIP5K1C, Which Encodes PIPKI?? of the Phophatidylinsitol Pathway, The American Journal of Human Genetics, vol.81, issue.3, pp.530-539, 2007.
DOI : 10.1086/520771

B. Ng, K. Hackmann, and M. Jones, Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome, The American Journal of Human Genetics, vol.90, issue.4, pp.685-693, 2012.
DOI : 10.1016/j.ajhg.2012.02.010

K. Nishiguchi, A. Avila-fernandez, and R. Van-huet, Exome Sequencing Extends the Phenotypic Spectrum for ABHD12 Mutations, Ophthalmology, vol.121, issue.8, 2014.
DOI : 10.1016/j.ophtha.2014.02.008

G. Novarino, A. Fenstermaker, and M. Zaki, Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders, Science, vol.343, issue.6170, pp.506-517, 2014.
DOI : 10.1126/science.1247363
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157572

P. Sergouniotis, A. Davidson, and D. Mackay, Biallelic Mutations in PLA2G5, Encoding Group V Phospholipase A2, Cause Benign Fleck Retina, The American Journal of Human Genetics, vol.89, issue.6, pp.782-791, 2011.
DOI : 10.1016/j.ajhg.2011.11.004

K. Setchell, J. Heubi, and K. Bove, Liver disease caused by failure to racemize trihydroxycholestanoic acid: Gene mutation and effect of bile acid therapy, Gastroenterology, vol.124, issue.1, pp.217-232, 2003.
DOI : 10.1053/gast.2003.50017

K. Setchell, M. Schwarz, O. Connell, and N. , Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease., Journal of Clinical Investigation, vol.102, issue.9, pp.1690-170, 1998.
DOI : 10.1172/JCI2962

R. Shaheen, Z. Rahbeeni, and A. Alhashem, Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH, The American Journal of Human Genetics, vol.94, issue.6, pp.898-904, 2014.
DOI : 10.1016/j.ajhg.2014.04.015

A. Siemiatkowska, L. Van-den-born, and M. Van-hagen, Mutations in the Mevalonate Kinase (MVK) Gene Cause Nonsyndromic Retinitis Pigmentosa, Ophthalmology, vol.120, issue.12, pp.2697-2705, 2013.
DOI : 10.1016/j.ophtha.2013.07.052

M. Simpson, H. Cross, and P. , Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase, Nature Genetics, vol.60, issue.11, pp.1225-1229, 2004.
DOI : 10.1016/0887-8994(93)90066-L

K. Siriwardena, N. Mackay, and V. Levandovskiy, Mitochondrial citrate synthase crystals: Novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations, Molecular Genetics and Metabolism, vol.108, issue.1, pp.40-50, 2013.
DOI : 10.1016/j.ymgme.2012.11.282

O. Skjeldal and O. Stokke, Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation, Journal of the Neurological Sciences, vol.77, issue.1, pp.87-96
DOI : 10.1016/0022-510X(87)90209-7

E. Smith, D. Gavrilov, and D. Oglesbee, An adult onset case of alpha-methyl-acyl-CoA racemase deficiency, Journal of Inherited Metabolic Disease, vol.35, issue.S3, pp.349-53, 2010.
DOI : 10.1007/s10545-010-9183-6

S. Sousa, D. Jenkins, and E. Chanudet, Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome, Nature Genetics, vol.261, issue.1, pp.70-77, 2014.
DOI : 10.1242/dev.02668

J. Sparrow, Y. Wu, and J. Zhou, Phospholipid meets all-trans-retinal: the making of RPE bisretinoids, The Journal of Lipid Research, vol.51, issue.2, pp.247-261, 2010.
DOI : 10.1194/jlr.R000687

U. Spiekerkoetter, Z. Khuchua, and Z. Yue, General Mitochondrial Trifunctional Protein (TFP) Deficiency as a Result of Either ??- or ??-Subunit Mutations Exhibits Similar Phenotypes Because Mutations in Either Subunit Alter TFP Complex Expression and Subunit Turnover, Pediatric Research, vol.187, issue.2, pp.190-196, 2004.
DOI : 10.1203/01.PDR.0000103931.80055.06

J. Stirnemann, M. Vigan, and D. Hamroun, The French Gaucher???s disease registry: clinical characteristics, complications and treatment of 562 patients, Orphanet Journal of Rare Diseases, vol.7, issue.1, p.77, 2012.
DOI : 10.1111/j.1399-0004.2008.00978.x

H. Waterham and M. Ebberink, Genetics and molecular basis of human peroxisome biogenesis disorders, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, vol.1822, issue.9, pp.1430-1471, 2012.
DOI : 10.1016/j.bbadis.2012.04.006

H. Waterham and C. P. , b ) Disorders of cholesterol synthesis, Saudubray van den Berghe, pp.463-471, 2012.

M. Willemsen, L. Ijlst, and P. Steijlen, Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjogren-Larsson syndrome, Brain, vol.124, issue.7, pp.1426-1437, 2001.
DOI : 10.1093/brain/124.7.1426

L. Wolfe, E. Morava, M. He, J. Vockley, and K. Gibson, Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.88, issue.4, pp.1-7, 2012.
DOI : 10.1002/ajmg.c.31345

S. Wortmann, F. Vaz, and T. Gardeitchik, Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness, Nature Genetics, vol.94, issue.7, pp.797-802, 2012.
DOI : 10.1038/ng.2325

Y. Xie, W. Lee, and C. Cai, New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11, Human Molecular Genetics, vol.23, issue.21, 2014.
DOI : 10.1093/hmg/ddu291

H. Yamamoto, A. Simon, and U. Eriksson, Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus, Nat Genet, vol.22, pp.188-191, 1999.

G. Yamamoto, A. Wagner, and T. Almeida, Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy, The American Journal of Human Genetics, vol.94, issue.1, pp.113-119, 2014.
DOI : 10.1016/j.ajhg.2013.11.022

A. Zeharia, A. Shaag, and R. Houtkooper, Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood, The American Journal of Human Genetics, vol.83, issue.4, pp.489-94, 2008.
DOI : 10.1016/j.ajhg.2008.09.002

L. Zelinger, E. Banin, and A. Obolensky, A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews, The American Journal of Human Genetics, vol.88, issue.2, pp.207-215, 2011.
DOI : 10.1016/j.ajhg.2011.01.002

K. Zhang, M. Kniazeva, and A. Hutchinson, The ABCR Gene in Recessive and Dominant Stargardt Diseases: A Genetic Pathway in Macular Degeneration, Genomics, vol.60, issue.2, pp.234-237, 1999.
DOI : 10.1006/geno.1999.5896

K. Zhang, M. Kniazeva, and M. Han, A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy, Nat Genet, vol.27, pp.89-93, 2001.

I. Zöller, M. Meixner, and D. Hartmann, Absence of 2-Hydroxylated Sphingolipids Is Compatible with Normal Neural Development But Causes Late-Onset Axon and Myelin Sheath Degeneration, Journal of Neuroscience, vol.28, issue.39, pp.9741-9754, 2008.
DOI : 10.1523/JNEUROSCI.0458-08.2008

S. Züchner, J. Dallman, and R. Wen, Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa, The American Journal of Human Genetics, vol.88, issue.2, pp.201-206, 2011.
DOI : 10.1016/j.ajhg.2011.01.001

P. Piga, P. Pign, and . Pigv, Supplementary Table: Gene defects in the lipid metabolism and their predominant clinical manifestation