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Literatur und Leitlinien

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Literatur

Literatur – Metabolische Krankheiten bei Erwachsenen
 
Allgemeines
·         De Valk HW, Bariento Martinez ZM (eds) Practical approach to rare metabolic disorders in adulthood. Lemma Publishers-Utrecht 2005.
 
·         Sedel F, Gourfinkel-An I, Lyon-Caen O, Baulac M, Saudubray JM, Navarro V. Epilepsy and inborn errors of metabolism in adults: a diagnostic approach.J Inherit Metab Dis (2007) 30:846-54. Review.
 
·         Wendel U, Burgard P. Seltene genetische Stoffwechselstörungen. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz (2007) 50:1556-63. Review.
 
·         Liver transplantation for metabolic liver diseases in adults: indications and outcome. Weiss KH, Gotthardt D, Schmidt J, Schemmer P, Encke J, Riediger C, Stremmel W, Sauer P, Merle U. Nephrol Dial Transplant (2007) 22, Suppl 8:viii9-viii12. Review.
 
·         Sedel F, Tourbah A, Fontaine B, Lubetzki C, Baumann N, Saudubray JM, Lyon-Caen O. Leukoencephalopathies associated with inborn errors of metabolism in adults. J Inherit Metab Dis (2008) 31:295-307. Review.
 
·         Nasser M, Javaheri H, Fedorowicz Z, Noorani Z. Carnitine supplementation for inborn errors of metabolism. Cochrane Database Syst Rev (2009) CD006659. Review.
 
Galaktosämie
·         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.
 
·         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.
 
·         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.
 
 
Phenylketonurie
·         Yannicelli S, Ryan A. Improvements in behaviour and physical manifestations in previously untreated adults with phenylketonuria using a phenylalanine-restricted diet: a national survey. J Inherit Metab Dis (1995) 18:131-4.
 
·         McDonnell GV, Esmonde TF, Hadden DR, Morrow JI.A neurological evaluation of adult phenylketonuria in Northern Ireland. Eur Neurol (1998) 39:38-43.
 
·         Moats RA, Moseley KD, Koch R, Nelson M Jr. Brain phenylalanine concentrations in phenylketonuria: research and treatment of adults. Pediatrics (2003) 112:1575-9
 
·         Koch R, Moseley KD, Yano S, Nelson M Jr, Moats RA. Large neutral amino acid therapy and phenylketonuria: a promising approach to treatment. Mol Genet Metab (2003) 79:110-3
 
·         Hanley WB. Adult phenylketonuria. Am J Med (2004) 117:590-5. Review.
 
·         Murphy GH, Johnson SM, Amos A, Weetch E, Hoskin R, Fitzgerald B, Lilburn M, Robertson L, Lee P. Adults with untreated phenylketonuria: out of sight, out of mind. Br J Psychiatry (2008) 193:501-2.
 
·         Yi SH, Singh RH. Protein substitute for children and adults with phenylketonuria. Cochrane Database Syst Rev (2008):CD004731.
 
·         Lee PJ, Amos A, Robertson L, Fitzgerald B, Hoskin R, Lilburn M, Weetch E, Murphy G. Adults with late diagnosed PKU and severe challenging behaviour: a randomised placebo-controlled trial of a phenylalanine-restricted diet. J Neurol Neurosurg Psychiatry (2009) 80:631-5.
 
·         MacLeod EL, Gleason ST, van Calcar SC, Ney DM. Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes. Mol Genet Metab (2009) 98:331-7.
 
·         Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen FJ. Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria. Mol Genet Metab (2009) 96:158-63.
 
·         Hoeksma M, Reijngoud DJ, Pruim J, de Valk HW, Paans AM, van Spronsen FJ. Phenylketonuria: High plasma phenylalanine decreases cerebral protein synthesis.Mol Genet Metab (2009) 96:177-82.
 
 
Maternale PKU
·         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
 
·         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.
 
·         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.
 
·         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.
 
·         Hanley WB. Finding the fertile woman with phenylketonuria. Eur J Obstet Gynecol Reprod Biol (2008) 137:131-5. Review.
 
 
Harnstoffzyklusdefekte
 
·         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.
 
·         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.
 
·         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.
 
·         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.
 
·         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.
 
 
Fettsäurenoxidationsstörungen
·         Lang TF. Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD). J Inherit Metab Dis (2009) 32:675-683.
 
Lysosomale Krankheiten
·         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.
 
Homocystinurie
·         Parrot F, Redonnet-Vernhet I, Lacombe D, Gin H. Osteoporosis in late-diagnosed adult homocystinuric patients. J Inherit Metab Dis (2000) 23:338-40.
 
·         Chauveheid MP, Lidove O, Papo T, Laissy JP. Adult-onset homocystinuria arteriopathy mimics fibromuscular dysplasia. Am J Med (2008) 121:e5-6.
 
Ahornsirupkrankheit (MSUD)
·         Kleopa KA, Raizen DM, Friedrich CA, Brown MJ, Bird SJ. Acute axonal neuropathy in maple syrup urine disease. Muscle Nerve (2001) 24:284-7.
 
·         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.
 
·         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.
 
·         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.
 
·         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.
 
·         Simon E, Schwarz M, Wendel U. Social outcome in adults with maple syrup urine disease (MSUD).J Inherit Metab Dis