Reading list and references

Ref 1 Rabier D, Ammonia production and detoxification, in: Pathophysiology and Management of Hyperammonemia (Editors: C. Bachmann, J. Häberle, J. Leonard), SPS publications, pages 11-24.

Ref 2 Häussinger D, Nitrogen metabolism in liver: structural and functional organization and physiological relevance, Biochem J, 1990, 267: 281-290

Ref 3 Häberle J, Clinical practice: the management of hyperammonemia, Eur J Pediatr, 2011, 170:21-34.

Ref 4 Häberle J, Clinical and biochemical aspects of primary and secondary hyerpammonemic disorders, Arch Biochem Biophys 2013; 536:101-108

Ref 5 Colombo J P et al., Plasma ammonia concentrations in newborns and children, Clin Chim Acta, 1984; 138(3): 283-91

Ref 6 Barsotti RJ, Measurement of ammonia in blood, J Pediatr, 2001; 138: S11-20.

Ref 7 Ott P, Vilstrup H, Cerebral effects of ammonia in liver disease: current hypotheses. Metab Brain Dis, Feb 2014 e-pub Ref 8 Rose C.F et al Astrocyte glutamine synthase:pivotal role in health and disease, Biochm Soc Transactions, 2014;41(6):1518-1524

Ref 9 Bak L K et al. The glutamate/GABA-glutamine cycle: aspects of transport, neurotransmitter homeostasis and ammonia transfer J Neurochem 2006 ;98: 641-653).

Ref 10 Hawkins R A et al. Structure of the blood-brain barrier and its role in the transport of amino acids J Nutr 2006; 136: 218S-226S

Ref 11 Wibom R et al AGC1 deficiency associated with global cerebral hypomyelination. N Engl J Med 2009; 361:489-95

Ref 12 Racke K and Warnken M L- Arginine Metabolic Pathways. The Open Nitric Oxide Journal 2010, 2:9-19.

Ref 13 Takanashi J et al. Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders Am J Neuroradiol 2003; 24: 1184-1187

Ref 14 Gyato K et al. Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency Ann Neurol 2004; 55: 80-86)

Ref 15 Gropman A L et al. 1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency. Mol Genet Metab 2008; 95: (1-2):21-30

Ref 16 Braissant O, Current concepts in the pathogenesis of urea cycle disorders. Mol Genet Metab, 2010; 100: S3- S12.

Ref 17 Gropman AL et al Neurological implications of urea cycle disorders. J Inherit Metab Dis 2007; 30: 865-879.

Ref 18 Kido J at al Long term outcomes and intervention of urea cycle disorders in Japan . Kido J et al, J Inherit Metab Dis 2012; 35(5): 777-785

Ref 19 Häberle J. et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Diseases 2012 7:32

Ref 20 Nassogne M C et al Urea cycle defects: management and outcome., J Inherit Metab Dis 2005; 28(3): 407-414

Ref 21 Urea cycle disorders: brain MRI and neurological outcomes. Bireley WR et al, Paediatr Radiol 2012; 42(4): 455-462.

Ref 22 Auron A and Brophy PD Hyperammonemia in review: pathophysiology, diagnosis, and treatment. Paediatr Nephrol 2012; 27(2): 207-222

Ref 23 Arbeiter AK, et al. Continuous venovenous haemodialysis (CVVHD) and continuous peritoneal dialysis (CPD) in the acute management of 21 children with inborn errors of metabolism. Nephrol Dial Transplant, 2010; 25:1257-1265

Ref 24 Picca S et al Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators. Pediatr Nephrol, 2001; 16:862-867.

Ref 25 Westrope C et al Continuous hemofiltration in the control of neonatal hyperammonemia: a 10-year experience. Pediatr Nephrol, 2010; 25:1725-1730.

Ref 26 Matthias R. et al Disorders of Ornithine Metabolism in Inborn Metabolic Diseases. 5th edition. 2011 editors Saudubray J-M, van den Berghe G, Walters JH.

Ref 27 Cleary MA, et al Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation. J Inherit Metab Dis, 2005; 28:673-679.

Ref 28 Mercimek-Mahmutoglu S, et al Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria. Mol Genet Metab, 2010; 100:24-28.

Ref 29 Ficicioglu C, et al Argininosuccinate lyase deficiency: long-term outcome of 13 patients detected by newborn screening. Mol Genet Metab, 2009; 98:273-277.

Ref 30 Erez A, et al Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. Am J Med Genet C Semin Med Genet, 2011.157(c):45-53.

Ref 31 Argininosuccinate Lyase Deficiency – GeneRI eviews™ -...www.ncbi.nlm.nih.gov/books/NBK51784

Ref 32 Walter JH, et al . Absence of acidosis in the initial presentation of propionic acidaemia. Arch Dis Child Fetal Neonatal Ed. 1995; 72(3): F197-

Ref 33 Jones S, et al. N-carbamylglutamate for neonatal hyperammonaemia in propionic acidaemia. J Inherit Metab Dis. 2008; 31 Suppl 2: S219-22.

Ref 34 Gebhardt B, et al. N-carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia. J Inherit Metab Dis. 2005; 28(2): 241-4

Ref 35 Gebhardt B, et al. N-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria. Mol Genet Metab. 2003; 79(4): 303-304

Ref 36 Levrat V, et al. Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia? Orphanet J Rare Dis. 2008; 3: 2.

Ref 37 Tuchman M, et al. N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers. Pediatr Res. 2008; 64(2): 213-7.

Ref 38 Schwahn BC, Pieterse L, Bisset WM, Galloway PG, Robinson PH. Biochemical efficacy of N-carbamylglutamate in neonatal severe hyperammonaemia due to propionic acidaemia. Eur J Pediatr. 2010; 169(1): 133-4.

Ref 39 Haberle J. Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency. Ther Clin Risk Manag. 2011; 7: 327-32.

Ref 40 Numata S, Harada E, Maeno Y, Ueki I, Watanabe Y, Fujii C, et al. Paternal transmission and slow elimination of mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients. J Hum Genet. 2008; 53(1): 10-7.

Ref 41 Glasgow JM, Middleton B. Reye syndrome—insights into causation and prognosis. Arch Dis Child 2001; 85:351-353.

Ref 42 Quental R, et al. Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene. Clin Genet. 2009; 75(5): 457-64.

Ref 43 Arranz JA, et al. Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome. J Inherit Metab Dis. 2007; 30(5): 813.

Ref 44 Yamaguchi S, et al. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene. Hum Mutat. 2006; 27(7): 626-32.