Carbamylphosphate synthetase deficiency in an infant with severe cerebral damage.

Hommes, F.A.; Groot, C. J. De; Wilmink, C.W.; Jonxis, J. H. P.

doi:10.1136/adc.44.238.688

Cited by 47 publications

(4 citation statements)

References 19 publications

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“…Table 1 summarizes the results of the present study together with those for seven previously reported Chinese patients. Chinese patients with CPS1D were reported to have early onset with average of 2.88 days of life (Table 1), consistent with previous reports (Hommes et al, 1969;Freeman et al, 1970;Ebels, 1972;Gelehrter and Snodgrass, 1974;Suzuki et al, 1986;Finckh et al, 1998;Kurokawa et al, 2007). Low plasma citrulline levels (average of 3.45 µmol/L) were found in all cases, associated with CPS1D.…”

Section: Discussionsupporting

confidence: 88%

“…The severity of the clinical manifestations of CPS1D depends on the degree of the enzymatic activity deficiency. The age of onset for neonatal-onset CPS1D ranges from day 0 to 20 (Hommes et al, 1969;Freeman et al, 1970;Ebels, 1972;Gelehrter and Snodgrass, 1974;Suzuki et al, 1986;Finckh et al, 1998;Kurokawa et al, 2007). Most patients with CPS1D present with neonatal onset and usually passed away quickly (G, S, T, Y, C, Q, and N), basic (K, R, and H), acidic (D and E), and hydrophobic (A, V, L, I, P, W, F, and M) amino acids are shown in green, blue, red, and black, respectively (Li et al, 2021).…”

Section: Discussionmentioning

confidence: 99%

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Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency

Bai

Guo

et al. 2022

Front. Neurosci.

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BackgroundCarbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder characterized by hyperammonaemia. The biochemical measurement of the intermediate metabolites is helpful for CPS1D diagnosis; it however cannot distinguish CPS1D from N-acetylglutamate synthetase deficiency. Therefore, next-generation sequencing (NGS) is often essential for the accurate diagnosis of CPS1D.MethodsNGS was performed to identify candidate gene variants of CPS1D in a Asian neonatal patient presented with poor feeding, reduced activity, tachypnea, lethargy, and convulsions. The potential pathogenicity of the identified variants was predicted by various types of bioinformatical analyses, including evolution conservation, domain and 3D structure simulations.ResultsCompound heterozygosity of CPS1D were identified. One was in exon 24 with a novel heterozygous missense variant c.2947C > T (p.P983S), and another was previously reported in exon 20 with c.2548C > T (p.R850C). Both variants were predicted to be deleterious. Conservation analysis and structural modeling showed that the two substituted amino acids were highly evolutionarily conserved, resulting in potential decreases of the binding pocket stability and the partial loss of enzyme activity.ConclusionIn this study, two pathogenic missense variants were identified with NGS, expanding the variants pectrum of the CPS1 gene. The variants and related structural knowledge of CPS enzyme demonstrate the applicability for the accurate diagnosis of CPS1D.

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Section: Discussionsupporting

confidence: 88%

Section: Discussionmentioning

confidence: 99%

Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency

Bai

Guo

et al. 2022

Front. Neurosci.

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“…To our knowledge only thirteen families with isolated mitochondrial CPS deficiency have been documented (Hommes et al 1969;Arashima and Matsuda 1972;Odidvre et al 1973;Gelehrter and Snodgrass 1974;Batshaw et al 1975;Sheffield et al 1976;Farriaux et al 1977;Lambotte et al 1977;Mantagos et al 1978;Van Gennip et al 1980;Kline et al 1981;Reynolds et al 1981; this patient). In seven of them (Gelehrter and Snodgrass 1974;Sheffield et al 1976;Farriaux et al 1977;Lambotte et al 1977;Mantagos et al 1978;Van Gennip et al 1980; this patient) there was a rapidly fatal neonatal outcome i.e.…”

Section: Discussionmentioning

confidence: 84%

Carbamyl phosphate synthetase deficiency with lethal neonatal outcome

et al. 1982

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“…Arginase deficiency can also be differentiated by discrete HA and progressive spastic diplegia or quadriparesis with intellectual disability. 44 In addition, several medications are also known to cause HA, including valproic acid, 84,85 corticosteroids, 64 and chemotherapy. 86,87 Neuroimaging Findings…”

Section: Differential Diagnosismentioning

confidence: 99%

The Urea Cycle Disorders

2014

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The urea cycle is the primary nitrogen-disposal pathway in humans. It requires the coordinated function of six enzymes and two mitochondrial transporters to catalyze the conversion of a molecule of ammonia, the α-nitrogen of aspartate, and bicarbonate into urea. Whereas ammonia is toxic, urea is relatively inert, soluble in water, and readily excreted by the kidney in the urine. Accumulation of ammonia and other toxic intermediates of the cycle lead to predominantly neurologic sequelae. The disorders may present at any age from the neonatal period to adulthood, with the more severely affected patients presenting earlier in life. Patients are at risk for metabolic decompensation throughout life, often triggered by illness, fasting, surgery and postoperative states, peripartum, stress, and increased exogenous protein load. Here the authors address neurologic presentations of ornithine transcarbamylase deficiency in detail, the most common of the urea cycle disorders, neuropathology, neurophysiology, and our studies in neuroimaging. Special attention to late-onset presentations is given.

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Carbamylphosphate synthetase deficiency in an infant with severe cerebral damage.

Cited by 47 publications

References 19 publications

Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency

Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency

Carbamyl phosphate synthetase deficiency with lethal neonatal outcome

The Urea Cycle Disorders

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