Long term use of Carglumic acid in patients with propionic and methylmalonic acidemia
DOI:
https://doi.org/10.54361/Keywords:
Carglumic acid, propionic acidemia, methylmalonic acidemiaAbstract
Objective: to evaluate the clinical long term use of carglumic acid in cases of propionic and methylmalonic acidemia Materials and Methods:13 patients diagnosed as PA, MMA at children hospital who are less than 2 years of age with no or minimal brain damage started on carglumic acid 50mg/kg/d divided 12h for at least 3 months were included in this study. Information’s were gathered from their medical files at Metabolic OPD during their regular visits and from medical files at paediatric/ ICU admissions if they encountered an acute crisis. Growth parameters, developmental assessment and frequency of admission due to crisis after treatment initiation were studied. In acute decomposition mean ammonia level, biochemical and haematological parameters and mean hospital stay were also observed. Results: 13 patients included in this study 8 propionic acidemia and 5 methylmallonic acidemia, started on Carglumic acid 50mg/kg/d for a period 3 to 9 months, 3 patients were admitted with metabolic decompensation, with average 2 days hospitalization. Conclusion: obvious decrease in no. Of hospitalizations due to metabolic decompensation as well as decrease in duration of hospital stay was noted in treated patients,Carglumic acid is well tolerated with no obvious side effects.
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References
Childs B, et al , idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism 1, Pediatrics 27 (1961) 522-538
Nyhan W.L, Borden, M, Childs B, idiopathic hyperglycinemia: a new disorder of amino acid metabolism. 11, the concentration of other amino acids in plasma and their modification by the administration of leucine, Pediatrics 27 (1961) 539-550
Hsia Y.E, Scully K.J, Rosenberg LE, defective propionate carboxylation in ketotic hyperglycinema, Lancet 1 (1969) 757-7748
Gomertz D, et al, localization of enzymic defect in propionic academia, Lancet 1 (1970) 1140-1143
Hsia Y.E, Scully K.J, Rosenberg LE, Inherited propionyl COA carboxylase deficiency in ketoeic hperglycinemia, J Clin. Invest. 50 (1971) 127-130
Brandt Lk, et al, propionic academia (ketotic hyperglycinemia): dietary treatment resulting in normal growth and development, Pediatrics 53 (1974) 391-395
Harber Landt, et al, Epilepsy in patients with propionic acidemia,Neurpediatrics 40 (2009) 120-125
Chemelli, Magnetic resonance spectroscopy (MRS) in five patients with treated propionic academia J Magn Resn Imaging 2000 (6): 596-6000
D. Baumgartner, et al Prolonged QTC intervals and decreased left ventricle contractility in patients with propionic acidemia, J Pediatr. 150 (2007) 192-197
S. Muller, et al, Propionic acidemia and immunodeficiency, Lancet 1 (1980) 551-552
LC Strok, et al Pancytopenia in Propioinic acidemia, haematological evaluation and studies in haematopoiesis in vitro, Pediatr Res;20 (1986) 783-788
T.Sipahi, D.Yilmaz, B. Tavil, Propionic acidemia with Myelodysplasia and neutropenia in a Turkish child, J Pedatr Haematol. ONcol; 26 (2004) 154-155
G. Bultron, et al Recurrent acute Pancreatitis associated with Propionic academia, A J Med Gent, A 146A (2008) 3090-3090
Valayannpolous V, et al Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favorable risk-benefit profile: a retrospective observational study, Orphanet J Rare disease (2016), 11:32
Albacan M, Boneh A Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidemia, Mol Gent Metab (2014): 4, Vol 109, 397-401,
MCC Machudo, et al, Hyperammonemia due to urea cycle disorder, a potentially fatal condition in the intensive Care setting, J Intens Care; 2 (2014), 4
HJ Yoon, Devastating Metabolic Brain disorders of Newborn and young infants Radio Graphcs(2014), Vol 37, No.2
P Jafari, et al, Brain damage in Methymalonic acidemia: 2-methyl citrate induces cerebral ammonium accumulation and apoptosis in 3 D organotypic brain cell cultures, Orphanet J Rare disease (2013) 8; 4
MR Baumgartner, et al Proposed guidelines for the diagnosis and management of methylmalonic and Propionic acidemia, Orphanet J Rare disease (2014) (; 130
M Daniotti, New development in the treatment of hyperammonemia, emerging use of Carglumic acid, Int J Gen Med (2011) 4, 21-28
Bachmann, et al, Nacethylglutamate synthetase deficiency: a disorder of ammonia detoxification N Engl J Med (1981) 9; 1543
Gebhardt B, et al, N –Carbamylglutamate protects patients with decompensatedPropionic acidemia from hyperammonemia J Inher Metab Dis (2005); 28 (2) 241-244
Baumgartner MR, proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia, Orphnet J rare Dis, 2014, 9,130
Chapman, Acute management of propionic acidemia, https://www.ncbi.nlm.nih.gov
Rafique M, Emerging trends in management of propionic acidemia, www.scieb.br,scielo
MoammarH , et al incidence and pattern of inborn error of metabolism in the Eastern Province of Saudi Arabia, 1983-2008, (2010) Ann. Saudi Med. 30, 271-277
M.Tuchmann, et al, long term outcome of N carbamylglutamate treatment in Propionic and methlymalonic acidemia, Clinical Trials.gov.(2015)
Alfadhel, M, Carglumic acid in methylmalonic acidemia and propionic acidemia, Clinical Trials.gov. (2017)
Burlina A, et al , Clinical experience with N Carbamylglutamate in a single-center Cohort of patients with propionic and methlmalonic aciduria, Mol Gent & Metab Reports (2016), vol 11
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