Sandbox : anmol: Difference between revisions
Jump to navigation
Jump to search
| Line 296: | Line 296: | ||
* Postprandial [[hyperglycemia]] and [[Lactic acidosis (patient information)|lactic acidosis]] | * Postprandial [[hyperglycemia]] and [[Lactic acidosis (patient information)|lactic acidosis]] | ||
|} | |} | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 14:02, 2 May 2018
|
Glycogen storage disease |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Glycogen storage disease
| Differentiating Glycogen Storage Diseases | ||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Glycogen storage disease | Enzyme deficiency | Genetics | History and symptoms | Physical examination | Laboratory findings | Imaging | Other features | |||||||
| Gene mutation | Inheritance | Chromosome | Hypoglycemia | Muscle weakness | Hypotonia | Hepatomegaly | Elevated CK | Cardiomegaly | ||||||
| Glycogen storage disease type I[1][2][3][4][5][6] | Von Gierke's disease | GSD type Ia | Glucose-6-phosphatase | G6PC gene mutation | Autosomal recessive | 17q21 | + | + | + | + | - | - | ||
| GSD type Ib | Microsomal glucose-6-phosphate transporter | SLC37A4 gene mutation | Autosomal recessive | 11q23 | ||||||||||
| Glycogen storage disease type II[7][8][9][10][11][12][13][14][15] | Pompe disease | Infantile onset | Acid alpha-glucosidase | GAA gene | Autosomal recessive | 17q25 | - | + | + | + | + | + | ||
| Late onset | Autosomal recessive | - | + | + | + | + | +/- | |||||||
| Glycogen storage disease type III[16][17][18][19][20][21] | Cori disease | GSD type IIIa | Debranching enzyme (deficiency in muscle and liver) | AGL gene mutation | Autosomal recessive | 1p21 | + | + | + | + | + | + |
| |
| GSD type IIIb | Debranching enzyme (deficiency in liver only) | Autosomal recessive | ||||||||||||
| Glycogen storage disease type IV[22][23][24][25][26] | Andersen's disease | Branching enzyme | GBE1 gene mutation | Autosomal recessive | 3p12 | +/- | + | + | + | + | + | - | ||
| Glycogen storage disease type V[27][28][29][30][31][32][33] | McArdle disease | Muscle glycogen phosphorylase | PYGM gene mutation | Autosomal recessive | 11q13 | - | + | - | - | + | - |
| ||
| Glycogen storage disease type VI[34][35][36][37][38] | Hers' disease | Autosomal | Liver glycogen phosphorylase | PYGL gene mutation | Autosomal recessive | 14q22 | +/- | + | +/- | + | - | - |
| |
| X-linked | PYGL gene mutation | X-linked recessive | X | |||||||||||
| Glycogen storage disease type VII[39][40][41][42][43][44] | Tarui's disease | Muscle phosphofructokinase | PFKM gene mutation | Autosomal recessive | 12q13 | + | + | - | - | + | + | |||
| Glycogen storage disease type IX[45][35][46] | GSD type IXa[47][48][49][50][51] | Phosphorylase b kinase (deficiency in liver only) | PHKA2 gene mutation | X-linked recessive | Xp22 | + | - | - | + | - | - |
| ||
| GSD type IXb[52][53][54] | Phosphorylase b kinase (deficiency in liver and muscle) | PHKB gene mutation | Autosomal recessive | 16q12 | + | - | - | + | - | - |
| |||
| Glycogen storage disease type X[55][56][57][58] | Phosphoglycerate mutase | PGAM2 gene mutation | Autosomal recessive | 7p13 | - | - | - | - | + | - |
| |||
| Glycogen storage disease type XI[59][60][61][62] | Lactate dehydrogenase A deficiency | Lactate dehydrogenase A | LDHA gene mutation | Autosomal recessive | 11p15 | - | - | - | - | + | - |
| ||
| Glycogen storage disease type XII[63][64][65][66] | Aldolase A deficiency | Aldolase A | ALDOA gene mutation | Autosomal recessive | 16p11 | - | + | - | + | - | - | |||
| Glycogen storage disease type XIII[67] | Beta-enolase | ENO3 gene mutation | Autosomal recessive | 17p13 | - | + | - | - | + | - | - | |||
| Glycogen storage disease type XIV[68][69] | Phosphoglucomutase type 2 | PGM1 gene mutation | Autosomal recessive | 1p31 | +/- | + | - | - | + | - |
| |||
| Glycogen storage disease type 0[70][71][72][73] | Lewis' disease | Hepatic glycogen synthase | GYS2 gene mutation (liver) | Autosomal recessive | 12p12 | + | - | - | - | - | - |
| ||
References
- ↑ Mansfield BC (1999). "Molecular Genetics of Type 1 Glycogen Storage Diseases". Trends Endocrinol Metab. 10 (3): 104–113. PMID 10322403.
- ↑ Ozen H (2007). "Glycogen storage diseases: new perspectives". World J Gastroenterol. 13 (18): 2541–53. PMC 4146814. PMID 17552001.
- ↑ Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A; et al. (2011). "Glucose-6-phosphatase deficiency". Orphanet J Rare Dis. 6: 27. doi:10.1186/1750-1172-6-27. PMC 3118311. PMID 21599942.
- ↑ Kishnani, Priya S.; Austin, Stephanie L.; Abdenur, Jose E.; Arn, Pamela; Bali, Deeksha S.; Boney, Anne; Chung, Wendy K.; Dagli, Aditi I.; Dale, David; Koeberl, Dwight; Somers, Michael J.; Burns Wechsler, Stephanie; Weinstein, David A.; Wolfsdorf, Joseph I.; Watson, Michael S. (2014). "Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics". Genetics in Medicine. doi:10.1038/gim.2014.128. ISSN 1098-3600.
- ↑ Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP (2002). "Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)". Eur. J. Pediatr. 161 Suppl 1: S20–34. doi:10.1007/s00431-002-0999-4. PMID 12373567.
- ↑ Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/
- ↑ Leslie N, Bailey L. Pompe Disease. 2007 Aug 31 [Updated 2017 May 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1261/
- ↑ Di Rocco M, Buzzi D, Tarò M (2007). "Glycogen storage disease type II: clinical overview". Acta Myol. 26 (1): 42–4. PMC 2949314. PMID 17915568.
- ↑ Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D; et al. (2006). "A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease". J Pediatr. 148 (5): 671–676. doi:10.1016/j.jpeds.2005.11.033. PMID 16737883.
- ↑ van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT; et al. (2003). "The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature". Pediatrics. 112 (2): 332–40. PMID 12897283.
- ↑ Slonim AE, Bulone L, Ritz S, Goldberg T, Chen A, Martiniuk F (2000). "Identification of two subtypes of infantile acid maltase deficiency". J Pediatr. 137 (2): 283–5. doi:10.1067/mpd.2000.107112. PMID 10931430.
- ↑ Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R (1990). "Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences". DNA Cell Biol. 9 (2): 85–94. doi:10.1089/dna.1990.9.85. PMID 2111708.
- ↑ Hoefsloot LH, Hoogeveen-Westerveld M, Kroos MA, van Beeumen J, Reuser AJ, Oostra BA (1988). "Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex". EMBO J. 7 (6): 1697–704. PMC 457155. PMID 3049072.
- ↑ Hoefsloot LH, Hoogeveen-Westerveld M, Reuser AJ, Oostra BA (1990). "Characterization of the human lysosomal alpha-glucosidase gene". Biochem J. 272 (2): 493–7. PMC 1149727. PMID 2268276.
- ↑ Kuo WL, Hirschhorn R, Huie ML, Hirschhorn K (1996). "Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization". Hum Genet. 97 (3): 404–6. PMID 8786092.
- ↑ Shen J, Bao Y, Liu HM, Lee P, Leonard JV, Chen YT (1996). "Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle". J Clin Invest. 98 (2): 352–7. doi:10.1172/JCI118799. PMC 507437. PMID 8755644.
- ↑ Ding JH, de Barsy T, Brown BI, Coleman RA, Chen YT (1990). "Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III". J Pediatr. 116 (1): 95–100. PMID 2295969.
- ↑ Aoyama Y, Ozer I, Demirkol M, Ebara T, Murase T, Podskarbi T; et al. (2009). "Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations". J Hum Genet. 54 (11): 681–6. doi:10.1038/jhg.2009.100. PMID 19834502.
- ↑ Kishnani, Priya S; Austin, Stephanie L; Arn, Pamela; Bali, Deeksha S; Boney, Anne; Case, Laura E; Chung, Wendy K; Desai, Dev M; El-Gharbawy, Areeg; Haller, Ronald; Smit, G Peter A; Smith, Alastair D; Hobson-Webb, Lisa D; Wechsler, Stephanie Burns; Weinstein, David A; Watson, Michael S (2010). "Glycogen Storage Disease Type III diagnosis and management guidelines". Genetics in Medicine. 12 (7): 446–463. doi:10.1097/GIM.0b013e3181e655b6. ISSN 1098-3600.
- ↑ Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. 2010 Mar 9 [Updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26372/
- ↑ Wolfsdorf JI, Weinstein DA (2003). "Glycogen storage diseases". Rev Endocr Metab Disord. 4 (1): 95–102. PMID 12618563.
- ↑ Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA; et al. (2004). "Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)". Neurology. 63 (6): 1053–8. PMID 15452297.
- ↑ Bruno C, Cassandrini D, Assereto S, Akman HO, Minetti C, Di Mauro S (2007). "Neuromuscular forms of glycogen branching enzyme deficiency". Acta Myol. 26 (1): 75–8. PMC 2949312. PMID 17915577.
- ↑ Brown BI, Brown DH (1966). "Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis". Proc Natl Acad Sci U S A. 56 (2): 725–9. PMC 224432. PMID 5229990.
- ↑ McConkie-Rosell A, Wilson C, Piccoli DA, Boyle J, DeClue T, Kishnani P; et al. (1996). "Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease". J Inherit Metab Dis. 19 (1): 51–8. PMID 8830177.
- ↑ Magoulas PL, El-Hattab AW. Glycogen Storage Disease Type IV. 2013 Jan 3. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK115333/
- ↑ McARDLE B (1951). "Myopathy due to a defect in muscle glycogen breakdown". Clin Sci. 10 (1): 13–35. PMID 24540673.
- ↑ SCHMID R, MAHLER R (1959). "Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle". J Clin Invest. 38: 2044–58. doi:10.1172/JCI103983. PMC 441792. PMID 14442994.
- ↑ Mommaerts WF, Illingworth B, Pearson CM, Guillory RJ, Seraydarian K (1959). "A FUNCTIONAL DISORDER OF MUSCLE ASSOCIATED WITH THE ABSENCE OF PHOSPHORYLASE". Proc Natl Acad Sci U S A. 45 (6): 791–7. PMC 222638. PMID 16590445.
- ↑ PEARSON CM, RIMER DG, MOMMAERTS WF (1961). "A metabolic myopathy due to absence of muscle phosphorylase". Am J Med. 30: 502–17. PMID 13733779.
- ↑ Grünfeld JP, Ganeval D, Chanard J, Fardeau M, Dreyfus JC (1972). "Acute renal failure in McArdle's disease. Report of two cases". N Engl J Med. 286 (23): 1237–41. doi:10.1056/NEJM197206082862304. PMID 4502558.
- ↑ Schmidt B, Servidei S, Gabbai AA, Silva AC, de Sousa Bulle de Oliveira A, DiMauro S (1987). "McArdle's disease in two generations: autosomal recessive transmission with manifesting heterozygote". Neurology. 37 (9): 1558–61. PMID 3476861.
- ↑ Martín MA, Lucía A, Arenas J, et al. Glycogen Storage Disease Type V. 2006 Apr 19 [Updated 2014 Jun 26]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1344/
- ↑ Wallis PG, Sidbury JB, Harris RC (1966). "Hepatic phosphorylase defect. Studies on peripheral blood". Am J Dis Child. 111 (3): 278–82. PMID 5904467.
- ↑ 35.0 35.1 Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J; et al. (2014). "The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada". Mol Genet Metab. 113 (3): 171–6. doi:10.1016/j.ymgme.2014.09.005. PMID 25266922.
- ↑ Burwinkel B, Bakker HD, Herschkovitz E, Moses SW, Shin YS, Kilimann MW (1998). "Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI". Am J Hum Genet. 62 (4): 785–91. PMC 1377030. PMID 9529348.
- ↑ Chang S, Rosenberg MJ, Morton H, Francomano CA, Biesecker LG (1998). "Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI". Hum Mol Genet. 7 (5): 865–70. PMID 9536091.
- ↑ Dagli AI, Weinstein DA. Glycogen Storage Disease Type VI. 2009 Apr 23 [Updated 2011 May 17]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK5941/
- ↑ Raben N, Sherman JB (1995). "Mutations in muscle phosphofructokinase gene". Hum Mutat. 6 (1): 1–6. doi:10.1002/humu.1380060102. PMID 7550225.
- ↑ TARUI S, OKUNO G, IKURA Y, TANAKA T, SUDA M, NISHIKAWA M (1965). "PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS". Biochem Biophys Res Commun. 19: 517–23. PMID 14339001.
- ↑ Layzer RB, Rowland LP, Ranney HM (1967). "Muscle phosphofructokinase deficiency". Arch Neurol. 17 (5): 512–23. PMID 4228297.
- ↑ Satoyoshi E, Kowa H (1967). "A myopathy due to glycolytic abnormality". Arch Neurol. 17 (3): 248–56. PMID 4228753.
- ↑ Waterbury L, Frenkel EP (1972). "Hereditary nonspherocytic hemolysis with erythrocyte phosphofructokinase deficiency". Blood. 39 (3): 415–25. PMID 4258222.
- ↑ Vora S, Corash L, Engel WK, Durham S, Seaman C, Piomelli S (1980). "The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy". Blood. 55 (4): 629–35. PMID 6444532.
- ↑ Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P; et al. (2007). "Glycogen storage disease type IX: High variability in clinical phenotype". Mol Genet Metab. 92 (1–2): 88–99. doi:10.1016/j.ymgme.2007.06.007. PMID 17689125.
- ↑ Goldstein J, Austin S, Kishnani P, et al. Phosphorylase Kinase Deficiency. 2011 May 31. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK55061/
- ↑ Keating JP, Brown BI, White NH, DiMauro S (1985). "X-linked glycogen storage disease. A cause of hypotonia, hyperuricemia, and growth retardation". Am J Dis Child. 139 (6): 609–13. PMID 3859203.
- ↑ Hendrickx J, Coucke P, Hors-Cayla MC, Smit GP, Shin YS, Deutsch J; et al. (1994). "Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2)". Genomics. 21 (3): 620–5. PMID 7959740.
- ↑ Schimke RN, Zakheim RM, Corder RC, Hug G (1973). "Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency". J Pediatr. 83 (6): 1031–4. PMID 4518931.
- ↑ Willems PJ, Gerver WJ, Berger R, Fernandes J (1990). "The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients". Eur J Pediatr. 149 (4): 268–71. PMID 2303074.
- ↑ Hendrickx J, Bosshard NU, Willems P, Gitzelmann R (1998). "Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years". Eur J Pediatr. 157 (11): 919–23. PMID 9835437.
- ↑ Bashan N, Iancu TC, Lerner A, Fraser D, Potashnik R, Moses SW (1981). "Glycogenosis due to liver and muscle phosphorylase kinase deficiency". Pediatr Res. 15 (4 Pt 1): 299–303. doi:10.1203/00006450-198104000-00002. PMID 6938920.
- ↑ Gray RG, Kumar D, Whitfield AE (1983). "Glycogen phosphorylase b kinase deficiency in three siblings". J Inherit Metab Dis. 6 (3): 107. PMID 6422139.
- ↑ Burwinkel B, Maichele AJ, Aagenaes O, Bakker HD, Lerner A, Shin YS; et al. (1997). "Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB)". Hum Mol Genet. 6 (7): 1109–15. PMID 9215682.
- ↑ Hadjigeorgiou GM, Kawashima N, Bruno C, Andreu AL, Sue CM, Rigden DJ; et al. (1999). "Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene". Neuromuscul Disord. 9 (6–7): 399–402. PMID 10545043.
- ↑ Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S (1993). "The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency". Am J Hum Genet. 52 (3): 472–7. PMC 1682163. PMID 8447317.
- ↑ Kissel JT, Beam W, Bresolin N, Gibbons G, DiMauro S, Mendell JR (1985). "Physiologic assessment of phosphoglycerate mutase deficiency: incremental exercise test". Neurology. 35 (6): 828–33. PMID 2987758.
- ↑ DiMauro S, Miranda AF, Khan S, Gitlin K, Friedman R (1981). "Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy". Science. 212 (4500): 1277–9. PMID 6262916.
- ↑ Yoshikuni K, Tagami H, Yamada M, Sudo K, Kanno T (1986). "Erythematosquamous skin lesions in hereditary lactate dehydrogenase M-subunit deficiency". Arch Dermatol. 122 (12): 1420–4. PMID 3789777.
- ↑ Kanno T, Sudo K, Maekawa M, Nishimura Y, Ukita M, Fukutake K (1988). "Lactate dehydrogenase M-subunit deficiency: a new type of hereditary exertional myopathy". Clin Chim Acta. 173 (1): 89–98. PMID 3383424.
- ↑ Maekawa M, Sudo K, Kanno T (1986). "Immunochemical studies on lactate dehydrogenase A subunit deficiencies". Am J Hum Genet. 39 (2): 232–8. PMC 1683931. PMID 3092644.
- ↑ Takayasu S, Fujiwara S, Waki T (1991). "Hereditary lactate dehydrogenase M-subunit deficiency: lactate dehydrogenase activity in skin lesions and in hair follicles". J Am Acad Dermatol. 24 (2 Pt 2): 339–42. PMID 1999544.
- ↑ Kishi H, Mukai T, Hirono A, Fujii H, Miwa S, Hori K (1987). "Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation". Proc Natl Acad Sci U S A. 84 (23): 8623–7. PMC 299598. PMID 2825199.
- ↑ Beutler E, Scott S, Bishop A, Margolis N, Matsumoto F, Kuhl W (1973). "Red cell aldolase deficiency and hemolytic anemia: a new syndrome". Trans Assoc Am Physicians. 86: 154–66. PMID 4788792.
- ↑ Kreuder J, Borkhardt A, Repp R, Pekrun A, Göttsche B, Gottschalk U; et al. (1996). "Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A." N Engl J Med. 334 (17): 1100–4. doi:10.1056/NEJM199604253341705. PMID 8598869.
- ↑ Hurst JA, Baraitser M, Winter RM (1987). "A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: similarities to a report of aldolase A deficiency". Am J Med Genet. 28 (4): 965–70. doi:10.1002/ajmg.1320280423. PMID 3688035.
- ↑ Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S; et al. (2001). "Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis". Ann Neurol. 50 (2): 202–7. PMID 11506403.
- ↑ Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S; et al. (2014). "Multiple phenotypes in phosphoglucomutase 1 deficiency". N Engl J Med. 370 (6): 533–42. doi:10.1056/NEJMoa1206605. PMC 4373661. PMID 24499211.
- ↑ Stojkovic T, Vissing J, Petit F, Piraud M, Orngreen MC, Andersen G; et al. (2009). "Muscle glycogenosis due to phosphoglucomutase 1 deficiency". N Engl J Med. 361 (4): 425–7. doi:10.1056/NEJMc0901158. PMID 19625727.
- ↑ Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blümel P; et al. (1998). "Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0". J Clin Invest. 102 (3): 507–15. doi:10.1172/JCI2890. PMC 508911. PMID 9691087.
- ↑ Laberge AM, Mitchell GA, van de Werve G, Lambert M (2003). "Long-term follow-up of a new case of liver glycogen synthase deficiency". Am J Med Genet A. 120A (1): 19–22. doi:10.1002/ajmg.a.20110. PMID 12794686.
- ↑ Gitzelmann R, Spycher MA, Feil G, Müller J, Seilnacht B, Stahl M; et al. (1996). "Liver glycogen synthase deficiency: a rarely diagnosed entity". Eur J Pediatr. 155 (7): 561–7. PMID 8831078.
- ↑ Rutledge SL, Atchison J, Bosshard NU, Steinmann B (2001). "Case report: liver glycogen synthase deficiency--a cause of ketotic hypoglycemia". Pediatrics. 108 (2): 495–7. PMID 11483824.