M. Duclos and . Pancréas-endocrine, Dans: Physiologie. 2 éd, Abrégés. Masson, vol.2006, pp.313-320

J. Borg and A. Reeber, Biochimie métabolique. 2 éd. Ellipses, 2008.

M. David, W. Petit, and M. Laughlin, Simultaneous synthesis and degradation of rat liver glycogen. An in vivo nuclear magnetic resonance spectroscopic study., Journal of Clinical Investigation, vol.86, issue.2, pp.612-617, 1990.
DOI : 10.1172/JCI114752

Y. Chen, Glycogen storage diseases. Dans: Scriver's OMMBID. McGraw -Hill Valle Beaudet Vogelstein Disponible: http://www.ommbid.com/OMMBID, pp.3355-3424

P. Roach, Glycogen and its Metabolism, Current Molecular Medicine, vol.2, issue.2, pp.101-120, 2002.
DOI : 10.2174/1566524024605761

J. Rake, G. Visser, and P. Labrune, Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)

J. Fernandes, R. Berger, and G. Smit, Lactate as a Cerebral Metabolic Fuel for Glucose-6-Phosphatase Deficient Children, Pediatric Research, vol.18, issue.4, pp.335-339, 1984.
DOI : 10.1203/00006450-198404000-00006

J. Collins, K. Bartlett, J. Leonard, and A. Aynsley-green, Glucose production rates in type 1 glycogen storage disease, Journal of Inherited Metabolic Disease, vol.245, issue.2, pp.195-206, 1990.
DOI : 10.1016/B978-0-12-640250-6.50005-3

L. Hue, The Role of Futile Cycles in the Regulation of Carbohydrate Metabolism in the Liver, Adv. Enzymol. Relat. Areas Mol. Biol, vol.70, pp.247-331, 1981.
DOI : 10.1073/pnas.70.11.3213

A. Lapidot, Inherited Disorders of Carbohydrate Metabolism in Children Studied by 13C-Labelled Precursors, NMR and GC-MS, J Inher Metab Dis, vol.13, p.466, 1990.
DOI : 10.1007/978-94-009-2175-7_8

J. Mcgarry and D. Foster, Regulation of Hepatic Fatty Acid Oxidation and Ketone Body Production, Annual Review of Biochemistry, vol.49, issue.1
DOI : 10.1146/annurev.bi.49.070180.002143

J. Cohen, A. Vinik, J. Faller, and I. Fox, Hyperuricemia in glycogen storage disease type I. Contributions by hypoglycemia and hyperglucagonemia to increased urate production., Journal of Clinical Investigation, vol.75, issue.1, pp.251-257, 1985.
DOI : 10.1172/JCI111681

I. Maire, C. Baussan, N. Moatti, M. Mathieu, and A. Lemonnier, Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience, Clinical Biochemistry, vol.24, issue.2, pp.169-178, 1991.
DOI : 10.1016/0009-9120(91)90511-C

R. Bandsma, G. Smit, and F. Kuipers, Disturbed lipid metabolism in glycogen storage disease type 1

R. Bandsma, J. Rake, and G. Visser, Increased lipogenesis and resistance of lipoproteins to oxidative modification in two patients with glycogen storage disease type 1a, The Journal of Pediatrics, vol.140, issue.2, pp.256-60, 2002.
DOI : 10.1067/mpd.2002.121382

C. Carvès, A. Duquenoy, F. Toutain, P. Trioche, C. Zarnitski et al., Tendinite goutteuse r??v??latrice d???une observation de glycog??nose type1a de l???adolescent, Revue du Rhumatisme, vol.70, issue.3, pp.268-273, 2003.
DOI : 10.1016/S1169-8330(03)00077-2

D. Melis, G. Parenti, D. Casa, and R. , Brain damage in glycogen storage disease type I, The Journal of Pediatrics, vol.144, issue.5, pp.637-642, 2004.
DOI : 10.1016/j.jpeds.2004.02.033

I. Restaino, B. Kaplan, C. Stanley, and L. Baker, Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease, The Journal of Pediatrics, vol.122, issue.3, pp.392-396, 1993.
DOI : 10.1016/S0022-3476(05)83422-5

Y. Chen, R. Coleman, J. Scheinman, P. Kolbeck, and J. Sidbury, Renal Disease in Type I Glycogen Storage Disease, New England Journal of Medicine, vol.318, issue.1, pp.7-11, 1988.
DOI : 10.1056/NEJM198801073180102

M. Humbert, P. Labrune, and G. Simonneau, Severe pulmonary arterial hypertension in type 1 glycogen storage disease, European Journal of Pediatrics, vol.128, issue.1, pp.93-99, 2002.
DOI : 10.7326/0003-4819-128-9-199805010-00008

J. Rake, G. Visser, and P. Labrune, Guidelines for management of glycogen storage disease type I???European study on glycogen storage disease type I (ESGSD I), European Journal of Pediatrics, vol.20, issue.Suppl 1, pp.112-121, 2002.
DOI : 10.1023/A:1005346824368

P. Labrune, T. Eberschweiler, P. Mollet-boudjemline, and A. , Histoire naturelle des glycog??noses avec atteinte h??patique, La Presse M??dicale, vol.37, issue.7-8, pp.7-81172, 2008.
DOI : 10.1016/j.lpm.2007.09.023

F. Feillet, Devenir osseux des patients porteurs de maladies héréditaires du métabolisme. Archives de pédiatrie, pp.552-554, 2007.
DOI : 10.1016/j.arcped.2007.02.034

B. Schwahn, F. Rauch, U. Wendel, and E. Schönau, Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control, The Journal of Pediatrics, vol.141, issue.3, pp.350-356, 2002.
DOI : 10.1067/mpd.2002.126456

M. Vantyghem, C. Mention, D. Dobbelaere, and C. Douillard, Hypoglyc??mies et manifestations endocriniennes des maladies h??r??ditaires du m??tabolisme chez l???adulte, Annales d'Endocrinologie, vol.70, issue.1, pp.25-42, 2009.
DOI : 10.1016/j.ando.2008.12.007

D. Lonlay, P. Valayonnopoulos, V. Dubois, and S. , Traitement di??t??tique des maladies h??r??ditaires du m??tabolisme, EMC - P??diatrie - Maladies infectieuses, vol.3, issue.2, pp.4-6, 2008.
DOI : 10.1016/S1637-5017(08)72400-1

R. Kelsch and W. Oliver, Studies on Dietary Correction of Metabolic Abnormalities in Hepatorenal Glycogenosis[45], Pediatric Research, vol.3, issue.2, pp.160-170, 1969.
DOI : 10.1203/00006450-196903000-00008

G. Daublin, B. Schwahn, and U. Wendel, Type I glycogen storage disease: favourable outcome on a strict management regimen avoiding increased lactate production during childhood and adolescence, European Journal of Pediatrics, vol.29, issue.Suppl 1, pp.40-45, 2002.
DOI : 10.1097/00005176-199908000-00008

DOI : 10.1111/j.1432-1033.1970.tb00967.x

R. Bandsma, B. Prinsen, and S. Van-der-velden-mde, Increased de novo Lipogenesis and Delayed Conversion of Large VLDL into Intermediate Density Lipoprotein Particles Contribute to Hyperlipidemia in Glycogen Storage Disease Type 1a, Pediatric Research, vol.27, issue.6, pp.702-709, 2008.
DOI : 10.1016/S0002-9149(98)00036-8

P. Labrune, Glycogen storage disease type I: indications for liver and/or kidney transplantation
DOI : 10.1007/s00431-002-1004-y

L. Franco, V. Krishnamurthy, and D. Bali, Hepatocellular carcinoma in glycogen storage disease type Ia: A case series, Journal of Inherited Metabolic Disease, vol.28, issue.2, pp.153-162, 2005.
DOI : 10.1007/s10545-005-7500-2

S. Iyer, C. Chen, and C. Wang, Long-term results of living donor liver transplantation for glycogen storage disorders in children, Liver Transplantation, vol.150, issue.6, pp.848-852, 2007.
DOI : 10.1016/0016-5085(91)90483-2

B. Dieckgraefe, J. Korzenik, A. Husain, and L. Dieruf, Association of glycogen storage disease 1b and Crohn disease: results of a North American survey, European Journal of Pediatrics, vol.28, issue.1, pp.88-92, 2002.
DOI : 10.1016/S0889-8529(05)70103-1

T. Kuijpers, Clinical symptoms and neutropenia: the balance of neutrophil development, functional activity, and cell death, European Journal of Pediatrics, vol.188, issue.1, pp.75-82, 2002.
DOI : 10.1084/jem.188.6.1173

G. Visser, J. Rake, and P. Labrune, Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European study on glycogen storage disease type 1, European Journal of Pediatrics, vol.274, issue.suppl 1, pp.83-90, 2002.
DOI : 10.1067/mpd.2000.105232

D. Melis, A. Havelaar, and E. Verbeek, NPT4, a new microsomal phosphate transporter: Mutation analysis in glycogen storage disease type Ic, Journal of Inherited Metabolic Disease, vol.27, issue.6, pp.725-733, 2004.
DOI : 10.1023/B:BOLI.0000045755.89308.2f

S. Chen, C. Pan, and K. Nandigama, The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic, The FASEB Journal, vol.22, issue.7, pp.2206-2213, 2008.
DOI : 10.1007/s004390051140

Ö. Hasan, Glycogen storage diseases: New perspectives, World J Gastroenterol, vol.13, issue.18, pp.2541-2553, 2007.

I. Fellows, J. Lowe, and A. Ogilvie, Type III glycogenosis presenting as liver disease in adults with atypical histological features., Journal of Clinical Pathology, vol.36, issue.4, pp.431-434, 1983.
DOI : 10.1136/jcp.36.4.431

P. Labrune, P. Trioche, I. Duvaltier, C. P. Odiã¨vre, and M. , Hepatocellular Adenomas in Glycogen Storage Disease Type I and III: A Series of 43 Patients and Review of the Literature, Journal of Pediatric Gastroenterology &amp Nutrition, vol.24, issue.3, p.276, 1997.
DOI : 10.1097/00005176-199703000-00008

S. Moses, N. Gadoth, N. Bashan, E. Ben-david, E. Slonim et al., Neuromuscular Involvement in Glycogen Storage Disease Type III, Acta Paediatrica, vol.279, issue.2, p.289, 1986.
DOI : 10.1016/0026-0495(74)90031-6

J. Cabrera-abreu, N. Crabtree, and E. Elias, Bone mineral density and markers of bone turnover in patients with glycogen storage disease types I, III and IX, Journal of Inherited Metabolic Disease, vol.27, issue.1, pp.1-9, 2004.
DOI : 10.1023/B:BOLI.0000016632.13234.56

P. Lee, C. Ferguson, and A. F. , Symptomatic hyperinsulinism reversed by dietary manipulation in glycogenosis type III, Journal of Inherited Metabolic Disease, vol.20, issue.4, p.612, 1997.
DOI : 10.1023/A:1005383831637

G. Smit, J. Rake, H. Akman, D. Mauro, and S. , The glycogen storage diseases and related disorders. Dans: Inborm metabolic diseases: diagnosis and treatment, Springe. Fernandes J, Saudubray JM, vol.2006, pp.101-119

P. Hwang, Y. See, A. Vincentini, M. Powers, R. Fletterick et al., Comparative sequence analysis of rat, rabbit, and human muscle glycogen phosphorylase cDNAs, European Journal of Biochemistry, vol.12, issue.2, p.267, 1985.
DOI : 10.1038/304447a0

A. Kagalwalla, Y. Kagalwalla, A. Ajaji, S. Gorka, W. et al., Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver, The Journal of Pediatrics, vol.127, issue.4, p.602, 1995.
DOI : 10.1016/S0022-3476(95)70123-0

S. Kure, D. Hou, and Y. Suzuki, Glycogen storage disease type Ib without neutropenia, The Journal of Pediatrics, vol.137, issue.2, pp.253-256, 2000.
DOI : 10.1067/mpd.2000.107472

J. Akanuma, T. Nishigaki, and K. Fujii, Glycogen storage disease type Ia: molecular diagnosis of 51

T. Nakamura, T. Ozawa, and T. Kawasaki, CASE REPORT: Hepatocellular carcinoma in type 1a glycogen storage disease with identification of a glucose-6-phosphatase gene mutation in one family, Journal of Gastroenterology and Hepatology, vol.18, issue.6
DOI : 10.1007/BF00711368

B. Weston, J. Lin, and J. Muenzer, Glucose-6-Phosphatase Mutation G188R Confers an Atypical Glycogen Storage Disease Type 1b Phenotype, Pediatric Research, vol.33, issue.3, pp.329-334, 2000.
DOI : 10.1136/jmg.33.5.358

T. Geberhiwot, S. Alger, and P. Mckiernan, Serum lipid and lipoprotein profile of patients with glycogen storage disease types I, III and IX, Journal of Inherited Metabolic Disease, vol.30, issue.3, p.406, 2007.
DOI : 10.1007/s10545-007-0485-2

F. Ubels, J. Rake, J. Slaets, G. Smit, and A. Smit, Is glycogen storage disease 1a associated with atherosclerosis?, European Journal of Pediatrics, vol.16, issue.Suppl 1, pp.62-66, 2002.
DOI : 10.1161/01.ATV.16.8.984

D. Weinstein and J. Wolfsdorf, Effect of continuous glucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease, European Journal of Pediatrics, vol.56, issue.1, pp.35-39, 2002.
DOI : 10.1016/S0022-3476(05)81077-7

P. Parker, I. Burr, A. Slonim, F. Ghishan, and H. Greene, Regression of hepatic adenomas in type Ia glycogen storage disease with dietary therapy, Gastroenterology, vol.81, issue.3, pp.534-536, 1981.

S. Reddy, P. Kishnani, and J. Sullivan, Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia, Journal of Hepatology, vol.47, issue.5, pp.658-663, 2007.
DOI : 10.1016/j.jhep.2007.05.012

D. Rocco, M. Calevo, and M. Taro-'m, Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease, Molecular Genetics and Metabolism, vol.93, issue.4, pp.398-402, 2008.
DOI : 10.1016/j.ymgme.2007.10.134

P. Lee, Glycogen storage disease type I: pathophysiology of liver adenomas, European Journal of Pediatrics, vol.35, issue.Suppl 2, pp.46-55, 2002.
DOI : 10.1203/00006450-199402000-00017

L. Bianchi, Glycogen storage disease I and hepatocellular tumours, European Journal of Pediatrics, vol.142, issue.S1, pp.63-70, 1993.
DOI : 10.1016/S0025-7125(16)31998-8

P. Kishnani, T. Chuang, and D. Bali, Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease, Human Molecular Genetics, vol.27, issue.24, pp.4781-4790, 2009.
DOI : 10.1002/humu.20399

J. Lerut, O. Ciccarelli, and C. Sempoux, Glycogenosis storage type I diseases and evolutive adenomatosis: an indication for liver transplantation, Transpl. Int, vol.16, issue.12, pp.879-884, 2003.

J. Limmer, W. Fleig, and D. Leupold, Hepatocellular carcinoma in type I glycogen storage disease, Hepatology, vol.81, issue.3, pp.531-537, 1988.
DOI : 10.1007/978-94-009-9215-3_20

S. Reddy, P. Kishnani, and J. Sullivan, Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia, Journal of Hepatology, vol.47, issue.5, pp.658-663, 2007.
DOI : 10.1016/j.jhep.2007.05.012

H. Laumonier and H. Trillaud, Imagerie des tumeurs bénignes du foie Radiologie et imagerie médicale -abdominale -digestive, pp.33-520, 2009.
DOI : 10.1016/s1879-8527(09)72839-4

M. Lewin and V. Vilgrain, Diagnostic radiologique des tumeurs h??patocytaires b??nignes, Gastroent??rologie Clinique et Biologique, vol.32, issue.3, pp.304-309, 2008.
DOI : 10.1016/j.gcb.2008.02.016

A. Nguyen, A. Bressenot, and S. Manolé, Contrast-Enhanced Ultrasonography in Patients With Glycogen Storage Disease Type Ia and Adenomas, Journal of Ultrasound in Medicine, vol.193, issue.4, pp.497-505, 2009.
DOI : 10.1148/radiology.193.2.7972769

D. Matern, T. Starzl, and W. Arnaout, Liver transplantation for glycogen storage disease types I, III, and IV, European Journal of Pediatrics, vol.158, issue.S2, pp.43-51, 1999.
DOI : 10.1007/PL00014320

URL : http://europepmc.org/articles/pmc3006437?pdf=render

W. Yiu, C. Pan, and R. Ruef, Angiotensin mediates renal fibrosis in the nephropathy of glycogen storage disease type Ia, Kidney International, vol.73, issue.6, pp.716-723, 2008.
DOI : 10.1038/sj.ki.5002718

M. Freundlich and U. Alon, Bisphosphonates in children with hypercalciuria and reduced bone mineral density, Pediatric Nephrology, vol.356, issue.Suppl 1, pp.2215-2220, 2008.
DOI : 10.7326/0003-4819-133-7-200010030-00010

M. Ueno, T. Murakami, A. Takeda, and M. Kubota, Efficacy of Oral Sildenafil in a Beraprost-Treated Patient With Severe Pulmonary Hypertension Secondary to Type I Glycogen Storage Disease, Circulation Journal, vol.73, issue.10, pp.1965-1968, 2009.
DOI : 10.1253/circj.CJ-08-0181

A. Lachaux, O. Boillot, and D. Stamm, Treatment with lenograstim (glycosylated recombinant human granulocyte colony-stimulating factor) and orthotopic liver transplantation for glycogen storage disease type Ib, The Journal of Pediatrics, vol.123, issue.6, pp.1005-1008, 1993.
DOI : 10.1016/S0022-3476(05)80403-2

V. Latger-cannard, M. Marchand-arvier, and M. Vidailhet, Neutrophil adherence receptor deficiency regressing with granulocyte-colony stimulating factor therapy in a case of glycogen storage disease type Ib, European Journal of Pediatrics, vol.161, issue.2, pp.87-93, 2002.
DOI : 10.1007/s00431-001-0874-8

G. Kannourakis, Glycogen storage disease, Seminars in Hematology, vol.39, issue.2, pp.103-106, 2002.
DOI : 10.1053/shem.2002.31920

K. Spiekermann, J. Roesler, A. Emmendoerffer, J. Elsner, and K. Welte, Functional features of neutrophils induced by G-CSF and GM-CSF treatment: differential effects and clinical implications, Leukemia, vol.11, issue.4, pp.466-478, 1997.
DOI : 10.1038/sj.leu.2400607

E. Yakisan, E. Schirg, and C. Zeidler, High incidence of significant bone loss in patients with severe congenital neutropenia (Kostmann???s syndrome), The Journal of Pediatrics, vol.131, issue.4, pp.592-597, 1997.
DOI : 10.1016/S0022-3476(97)70068-4

J. Donadieu, T. Leblanc, B. Meunier, and B. , Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group, Haematologica, vol.90, issue.1, pp.45-53, 2005.

P. Simmons, W. Smithson, G. Gronert, and M. Haymond, Acute myelogenous leukemia and malignant hyperthermia in a patient with type 1b glycogen storage disease, The Journal of Pediatrics, vol.105, issue.3, pp.428-431, 1984.
DOI : 10.1016/S0022-3476(84)80020-7

M. Pinsk, J. Burzynski, and M. Yhap, Acute Myelogenous Leukemia and Glycogen Storage Disease 1b, Journal of Pediatric Hematology/Oncology, vol.24, issue.9, pp.756-758, 2002.
DOI : 10.1097/00043426-200212000-00015

H. Alpay, Transition of the adolescent patient to the adult clinic, Perit Dial Int, vol.29, issue.2, pp.180-182, 2009.

N. Beauchamp, A. Dalton, and U. Ramaswami, Glycogen storage disease type IX: High variability in clinical phenotype, Molecular Genetics and Metabolism, vol.92, issue.1-2, pp.88-99, 2007.
DOI : 10.1016/j.ymgme.2007.06.007

V. De-lédinghen, L. Bail, B. Rebouissoux, and L. , Liver Stiffness Measurement in Children Using FibroScan: Feasibility Study and Comparison With Fibrotest, Aspartate Transaminase to Platelets Ratio Index, and Liver Biopsy, Journal of Pediatric Gastroenterology and Nutrition, vol.45, issue.4, pp.443-450, 2007.
DOI : 10.1097/MPG.0b013e31812e56ff

. Examen-cardiaque, Auscultation cardiaque : -TA : FC : Examen abdominal : -Hépatomégalie (mesure en flèche hépatique) +/-splénomégalie : -Orifice de gastrostomie : -Autre

V. Nancy and N. Le, Graphique 49 : apport calorique journalier et répartition chez le patient 14???????????? p 123, 2010.