Literature
S. vom Dahl, F. Lammert, K. Ullrich, U. Wendel (Hrsg.)Inborn Errors of Metabolism in Adults (2014)
Selected chapters can be requested from the ASIM and are intended for private scientific and/or private clinical use only.
Please direct your request to the ASIM office at: I.Peukert@outlook.de
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- Schwarz, M. Inborn Errors of Metabolism. (2007).
An overview worth reading for all physicians dealing with metabolic disorders – also containing information on emergency case therapy - Hoffmann, B., M. Schwarz, D. Haussinger, E. Mayatepek, and U. Wendel. Medical Care for Adult Patients Suffering from Inborn Errors of Metabolism. A Survey in Germany. Med Klin (Munich) 100:617-623 (2005).
- Schwarz, M., and U. Wendel. Adults Suffering from Inborn Errors of Metabolism. A New Challenge for Internal Medicine (part II) Med Klin (Munich) 100:624-635 (2005).
- Schwarz, M., and U. Wendel. Adults Suffering from Inborn Errors of Metabolism. A New Challenge for Internal Medicine (part I) Med Klin (Munich) 100:547-552 (2005).
- Schwarz, M., E. Harms, U. Wendel, M. Berger, and H.H. Abholz. Inborn Errors of Metabolism at Nursling Age – Ignorance at Adult Age Deutsches Ärzteblatt 99:2030-2032 (2002).
- Schwarz, M. Inborn Errors of Metabolism. (2007).
Morbus Pompe
Nesrin Karabul, MD; Janine Berndt; Cornelia Kornblum, MD; Rudolf A Kley, MD; Stephan Wenninger, MD; Nikolaus Tiling, MD; Eugen Mengel, MD; Ursula Plöckinger, MD; Matthias Vorgerd, MD; Marcus Deschauer, MD; Benedikt Schoser, MD; Frank Hanisch Pregnancy and Delivery in Women with Pompe Disease. Molecular Genetics and Metabolism (2014)
Schüller, Angela; Kornblum, Cornelia; Deschauer, Marcus; Vorgerd, Matthias; Schrank, Bertold; Mengel, Eugen; Lukacs, Zoltan; Gläser, Dieter; Young, Peter; Plöckinger, Ursula; Schoser, Benedikt Diagnose und Therapie des late-onset Morbus Pompe/Glykogenspeichererkrankung Typ 2 Der Nervenarzt, Springer-Verlag (2013, 1-6)
Plöckinger U Sozial-politische Aspekte bei angeborenen Stoffwechselerkrankungen im Erwachsenenalter Genetisch bedingte Stoffwechselerkankungen im Erwachsenenalter. Ein Kompendium für die Klinik, Springer-Verlag (2014)
Phenylketonuria
Jan-Hendrik Hassel, Nikolaus Tilling, Lenka Bosanska, Bernhard Schnackenburg, Daniel Messroghli, Alexander Berger, Rolf Gebker, Christopher Schneeweis, Eckart Fleck, Ursula Plöckinger, Sebastian Kelle Comprehensive characterization of cardiac morphology and function in adult patients with phenylketonuria using CMR. Journal of Cardiovascular Magnetic Resonance (2014)
Hennermann JB, Roloff S, Gellermann J, Vollmer I, Windt E, Plöckinger U, Mönch E, Querfeld U Chronic Kidney Disease in Adolescent and Adult Patients with Phenylketonuria. Journal of Cardiovascular Magnetic Resonance (2012)
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017; 162: 13023-017-0685-2
Mahan KC, Gandhi MA, Anand S. Pegvaliase A novel treatment option for adults with phenylketonuria.Curr Med Res Opin. 2019; 35:647-651.
Glycogenoses
Magdalena Sarah Volz; Mani Nassir, Christoph Treese; Moritz von Winterfeld; Ursula Plöckinger; Hans-Jörg Epple; Britta Siegmund Inflammatory bowel disease (IBD)-like disease in a case of a 33-year old man with glycogenosis 1b. BMC Gastroenterology (2015)
Maple Syrup Urine Disease
Simon E, Schwarz M, Wendel U. Social outcome in adults with maple syrup urine disease (MSUD). J Inherit Metab Dis (2007)
Khanna A, Hart M, Nyhan WL, Hassanein T, Panyard-Davis J, Barshop BA. Domino liver transplantation in maple syrup urine disease. Liver Transpl (2006) 12:876-82.
le Roux C, Murphy E, Hallam P, Lilburn M, Orlowska D, Lee P. Neuropsychometric outcome predictors for adults with maple syrup urine disease. J Inherit Metab Dis (2006) 29:201-2.
Strauss KA , Mazariegos GV , Sindhi R , Squires R , Finegold DN , Vockley G , Robinson DL , Hendrickson C , Virji M , Cropcho L , Puffenberger EG , McGhee W , Seward LM , Morton DH . Elective liver transplantation for the treatment of classical maple syrup urine disease. Am J Transplant (2006) 6:557-64.
le Roux C, Murphy E, Lilburn M, Lee PJ. The longest-surviving patient with classical maple syrup urine disease. J Inherit Metab Dis ( 2006) 29:190-4.
Hallam P, Lilburn M, Lee PJ. A new protein substitute for adolescents and adults with maple syrup urine disease (MSUD). J Inherit Metab Dis (2005) 28:665-72.
Simon E, Wendel U, Schadewaldt P. Maple syrup urine disease-treatment and outcome in patients of Turkish descent in Germany. Turk J Pediatr (2005) 47:8-13.
Schönberger S , Schweiger B, Schwahn B, Schwarz M, Wendel U. Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease. Mol Genet Metab (2004) 82:69-75.
Kleopa KA , Raizen DM , Friedrich CA , Brown MJ , Bird SJ. Muscle Nerve (2001) 24:284-7.
Homocystinuria
Chauveheid MP, Lidove O, Papo T, Laissy JP. Adult-onset homocystinuria arteriopathy mimics fibromuscular dysplasia. Am J Med (2008) 121:e5-6.
Parrot F, Redonnet-Vernhet I, Lacombe D, Gin H. Osteoporosis in late-diagnosed adult homocystinuric patients. J Inherit Metab Dis (2000) 23:338-40.
Lysosomal Storage Diseases
Lipinski SE, Lipinski MJ, Burnette A, Platts-Mills TA, Wilson WG. Desensitization of an adult patient with Pompe disease and a history of anaphylaxis to alglucosidase alfa. Mol Genet Metab (2009) 98:319-21.
Wraith JE, Guffon N, Rohrbach M, Hwu WL, Korenke GC, Bembi B, Luzy C, Giorgino R, Sedel F. Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study. Mol Genet Metab (2009) 98:250-4.
Pineda M, Wraith JE, Mengel E, Sedel F, Hwu WL, Rohrbach M, Bembi B, Walterfang M, Korenke GC, Marquardt T, Luzy C, Giorgino R, Patterson MC. Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study. Mol Genet Metab (2009) 98:243-9.
Kishnani PS, DiRocco M, Kaplan P, Mehta A, Pastores GM, Smith SE, Puga AC, Lemay RM, Weinreb NJ. A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1. Mol Genet Metab (2009);96:164-70.
Machaczka M, Klimkowska M, Hägglund H. Effort bruising disclosing Gaucher disease in a 55-year-old non-Jewish woman. J Inherit Metab Dis (2009) 32:758-761.
Crosbie TW, Packman W, Packman S. Psychological aspects of patients with Fabry disease. J Inherit Metab Dis (2009) 32:745-753.
Hoffmann B. Fabry disease: Recent advances in pathology, diagnosis, treatment and monitoring. Orphanet J Rare Dis (2009) 11:21.
Dilger HJ, Leissner E, Bosanska L, Lampe C, Beck M, Plöckinger U Illness Perceptions and Clinical Treatment Experiences in Patients with M. Maroteaux-Lamy (Mucopolysaccharidosis Type VI) and a Turkish Migration Background in Germany. PlosONE (2013) Jun 24;8(6).
Medium-Chain Acyl-coA Dehydrogenase Deficiency (MCADD)
Lang TF. Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD).J Inherit Metab Dis (2009) 32:675-683.
Urea Cycle Disorders
Ficicioglu C, Mandell R, Shih VE. Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening. Mol Genet Metab (2009) 98:273-7.
Atiq M, Holt AF, Safdar K, Weber F, Ravinuthala R, Jonas M, Neff GW. Adult onset urea cycle disorder in a patient with presumed hepatic encephalopathy. J Clin Gastroenterology (2008) 42:213-214.
Enns GM, Berry SA, Berry GT, Rhead WJ, Brusilow SW, Hamosh A. Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. NEJM (2007) 356:2282-2292.
Summar ML, Barr F, Dawling S, Smith W, Lee B, Singh RH, Rhead WJ, Sniderman King L, Christman BW. Unmasked adult-onset urea cycle disorders in the critical care setting. Crit Care Clin (2005) 21,Suppl:S1-8.
Wilson BE, Hobbs WN, Newmark JJ, Farrow SJ. Rapidly fatal hyperammonemic coma in adults. Urea cycle enzyme deficiency. West J Med (1994) 161: 166–168.
Maternal Phenylketonuria
Hanley WB. Finding the fertile woman with phenylketonuria. Eur J Obstet Gynecol Reprod Biol (2008) 137:131-5. Review.
Hanley WB, Azen C, Koch R, Michals-Matalon K, Matalon R, Rouse B, Trefz F, Waisbren S, de la Cruz F. Maternal Phenylketonuria Collaborative Study (MPKUCS)–the ‚outliers‘. J Inherit Metab Dis (2004) 27:711-23.
Levy HL, Waisbren SE, Güttler F, Hanley WB, Matalon R, Rouse B, Trefz FK, de la Cruz F, Azen CG, Koch R. Pregnancy experiences in the woman with mild hyperphenylalaninemia. Pediatrics (2003) 112:1548-52
Güttler F, Azen C, Guldberg P, Romstad A, Hanley WB, Levy HL, Matalon R, Rouse BM, Trefz F, de la Cruz F, Koch R. Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome. Pediatrics (2003) 112:1530-3.
Platt LD, Koch R, Hanley WB, Levy HL, Matalon R, Rouse B, Trefz F, de la Cruz F, Güttler F, Azen C, Friedman EG. The international study of pregnancy outcome in women with maternal phenylketonuria: report of a 12-year study. Am J Obstet Gynecol (2000) 182:326-33.
Güttler F, Azen C, Guldberg P, Romstad A, Hanley WB, Levy HL, Matalon R, Rouse BM, Trefz F, de la Cruz F, Koch R. Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study. Pediatrics (1999) 104:258-62.
Hanley WB, Platt LD, Bachman RP, Buist N, Geraghty MT, Isaacs J, O’Flynn ME, Rhead WJ, Seidlitz G, Tishler B. Undiagnosed maternal phenylketonuria: the need for prenatal selective screening or case finding. Am J Obstet Gynecol (1999) 180:986-94. Review
Galactosaemia
Bosch AM, Maurice-Stam H, Wijburg FA, Grootenhuis MA. Remarkable differences: the course of life of young adults with galactosaemia and PKU.J Inherit Metab Dis (2009) 32: 706-712.
Gubbels CS, Kuppens SM, Bakker JA, Konings CJ, Wodzig KW, de Sain-van der Velden MG, Menheere PP, Rubio-Gozalbo ME. Pregnancy in classic galactosemia despite undetectable anti-Müllerian hormone. Fertil Steril (2009) 91:1293.
Schadewaldt P, Hammen HW, Kamalanathan L, Wendel U, Schwarz M, Bosch AM, Guion N, Janssen M, Boers GH. Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia–and review of the literature. Eur J Pediatr (2009) 168:721-9.
Sanders RD, Spencer JB, Epstein MP, Pollak SV, Vardhana PA, Lustbader JW, Fridovich-Keil JL. Biomarkers of ovarian function in girls and women with classic galactosemia. Fertil Steril (2009) 92:344-51.
Dubroff JG, Ficicioglu C, Segal S, Wintering NA, Alavi A, Newberg AB. FDG-PET findings in patients with galactosaemia J Inherit Metab Dis (2008) 31:533-9.
Knauff EA, Richardus R, Eijkemans MJ, Broekmans FJ, de Jong FJ, Fauser BC, Bosch AM. Heterozygosity for the classical galactosemia mutation does not affect ovarian reserve and menopausal age. Reprod Sci (2007) 14:780-5.
Ohlsson A, Nasiell J, von Döbeln U. Pregnancy and lactation in a woman with classical galactosaemia heterozygous for p.Q188R and p.R333W. J Inherit Metab Dis (2007) 30:105.