Defects in amino acid catabolism and the urea cycle

Handbook of Clinical Neurology - Tập 113 - Trang 1755-1773 - 2013
Georg F. Hoffmann1, Stefan Kölker1
1Department of General Pediatrics, University Children's Hospital Heidelberg, Heidelberg, Germany

Tài liệu tham khảo

Aires, 2010, New insights on the mechanisms of valproate-induced hyperammonemia: inhibition of hepatic N-acetylglutamate synthase activity by valproyl-CoA, J Hepatol, 55, 426, 10.1016/j.jhep.2010.11.031 Baric, 2004, S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism, Proc Natl Acad Sci U S A, 101, 4234, 10.1073/pnas.0400658101 Barth, 1983, An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes, J Neurol Sci, 62, 327, 10.1016/0022-510X(83)90209-5 Ben-Omran, 2006, Atypical phenotype in a boy with a maple syrup urine disease, J Inherit Metab Dis, 29, 195, 10.1007/s10545-006-0224-0 Bindu, 2007, Intermediate maple syrup urine disease: neuroimaging observations in 3 patients from South India, J Child Neurol, 22, 911, 10.1177/0883073807304003 2003 2005 Campeau, 2009, Management of West syndrome in a patient with methylmalonic aciduria, J Child Neurol, 27, 94 Goodman, 1975, Glutaric aciduria: a “new” disorder of amino acid metabolism, Biochem Med, 12, 12, 10.1016/0006-2944(75)90091-5 Güngör, 2008, Neuroimaging findings in hyperargininemia, J Neuroimaging, 18, 457, 10.1111/j.1552-6569.2007.00217.x Harting, 2009, Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I, Brain, 132, 1764, 10.1093/brain/awp112 Heringer, 2010, Use of guidelines improves the neurological outcome in glutaric aciduria type I, Ann Neurol, 68, 743, 10.1002/ana.22095 Hoffmann, 1994, Neurological manifestations of organic acid disorders, Eur J Pediatr, 153, S94, 10.1007/BF02138786 Hoffmann, 2006, Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD, Pediatr Res, 59, 17, 10.1203/01.pdr.0000190571.60385.34 Holmgren, 1980, Intermittent neurological symptoms in a girl with a maple syrup urine disease (MSUD) variant, Neuropediatrics, 11, 377, 10.1055/s-2008-1071404 Hörster, 2007, Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (muto, mut−, cblA, cblB), Pediatr Res, 62, 225, 10.1203/PDR.0b013e3180a0325f Koch, 2003, The maternal phenylketonuria international study: 1984–2002, Pediatrics, 112, 1523, 10.1542/peds.112.S4.1523 Kölker, 2006, Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency, Pediatr Res, 59, 840, 10.1203/01.pdr.0000219387.79887.86 Kornfeld, 1985, Neuropathology of ornithine carbamyl transferase deficiency, Acta Neuropathol (Berl), 65, 261, 10.1007/BF00687006 Kranendijk, 2010, IDH2 mutations in patients with D-2-hydroxyglutaric aciduria, Science, 330, 336, 10.1126/science.1192632 Lenke, 1980, Maternal phenylketonuria and hyperphenylalaninemia: an international study of treated and untreated pregnancies, N Engl J Med, 303, 1202, 10.1056/NEJM198011203032104 Mamourian, 1991, Urea cycle defect: a case with MR and CT findings resembling infarct, Pediatr Radiol, 21, 594, 10.1007/BF02012608 Mattson, 1995, Central pontine myelinolysis as a complication of partial ornithine carbamoyl transferase deficiency, Am J Med Genet, 60, 210, 10.1002/ajmg.1320600308 Morton, 2002, Diagnosis and treatment of maple syrup disease: a study of 36 patients, Pediatrics, 109, 999, 10.1542/peds.109.6.999 Mudd, 1985, The natural history of homocystinuria due to cystathionine β-synthase deficiency, Am J Hum Genet, 37, 1 Oechsner, 1998, Hyperammonaemic encephalopathy after initiation of valproate therapy in unrecognised ornithine transcarbamylase deficiency, J Neurol Neurosurg Psychiatry, 64, 680, 10.1136/jnnp.64.5.680 Perez-Cerda, 2005, 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease, Pediatr Res, 58, 488, 10.1203/01.pdr.0000176916.94328.cd Prietsch, 2002, Emergency management of inherited metabolic disease, J Inherit Metab Dis, 25, 531, 10.1023/A:1022040422590 Schulze, 2003, Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications, Pediatrics, 111, 1399, 10.1542/peds.111.6.1399 Struys, 2005, Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria, Am J Hum Genet, 76, 358, 10.1086/427890 Sutter, 2009, Cerebral edema and intracranial hypertension in an adult with maple syrup urine disease, Eur J Neurol, 16, e45, 10.1111/j.1468-1331.2008.02425.x Takanashi, 2003, Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders, AJNR Am J Neuroradiol, 24, 1184 Tanaka, 1966, Isovaleric acidemia: a new genetic defect of leucine metabolism, Proc Natl Acad Sci U S A, 56, 236, 10.1073/pnas.56.1.236 Wortmann, 2006, Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalpathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of oxidative phosphorylation, Mol Genet Metab, 88, 47, 10.1016/j.ymgme.2006.01.013 Wortmann, 2009, Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy, Brain, 132, 136, 10.1093/brain/awn296 Wortmann, 2013, 3-Methylglutaconic aciduria – lessons from 50 genes and 977 patients, J Inherit Metab Dis, 10.1007/s10545-012-9579-6 Zinnanti, 2009, Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease, Brain, 132, 903, 10.1093/brain/awp024 Zschocke, 2011 Zschocke, 2000, Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism, Pediatr Res, 48, 852, 10.1203/00006450-200012000-00025