Urea Cycle Disorders in Neonates: Six Case Reports

Çelik, Kıymet; Terek, Demet; Olukman, Özgür; Kağnıcı, Mehtap; Gözmen, Şükran Keskin; Serdaroğlu, Erkin; Çalkavur, Şebnem; Arslanoğlu, Sertaç

doi:10.4274/jpr.52724

Cited by 4 publications

(6 citation statements)

References 6 publications

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“…Urea cycle defects (UCD) have a high morbidity and mortality rate especially in the neonatal period. 1,3 Since the disease has similar features as sepsis there can be delay in the diagnosis and poses a diagnostic challenge for the pediatrician. At the same time, it causes delay in the initiation of treatment.…”

Section: Discussionmentioning

confidence: 99%

“…If the plasma citrulline level is at or below traces level, carbamoyl phosphate synthetse CPS1 and OTC deficiency should be considered. 1 With modern techniques, mutation analysis based on Sanger sequencing is the method of choice for confirmation of the diagnosis. Management option in the long term involves reducing the ammonia levels either with sodium benzoate, sodium phenylacetate or peritoneal dialysis/hemodialysis.…”

Section: Discussionmentioning

confidence: 99%

“…cycle disorders are associated with hyperammonemia resulting in severe neurological dysfunction like encephalopathy, seizures, developmental and psychomotor delay. 1 Ammonia is a metabolite resulting from the breakdown of proteins in the body.…”

Section: Ureamentioning

confidence: 99%

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Recurrent encephalopathy and hyperammonemia in new born: case of arginosuccinic aciduria

Singh

Gupta²

2018

Int J Contemp Pediatr

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Urea cycle disorders result from defects in the metabolism of waste nitrogenous compounds derived from the breakdown of proteins and other nitrogen-containing molecules. Argininosuccinic aciduria is a rare autosomal recessive heterogeneous urea cycle disorder, which leads to the accumulation of argininosuccinic acid in the blood and urine. It is caused by defect in the argininosuccinate lyase (ASL) gene, which regulates the breakdown of argininosuccinate to fumarate and arginine in the urea cycle. They are a heterogeneous group of disorders which are associated with hyperammonemia resulting in severe neurological dysfunction like encephalopathy, seizures, developmental and psychomotor delay. The severe central nervous system dysfunction is by alteration of amino acid and neurotransmitters pathways and interference with normal cerebral energy metabolism and oxidative stress. Ammonium toxicity to the brain provokes irreversible damage due to cortical atrophy, edema, and demyelination, resulting in seizures, coma, and even death. We report such a case of urea cycle defect in a newborn that presented with recurrent encephalopathy with hyperammonemia precipitated by minor infections. Detailed investigations including genetic analysis lead to the diagnosis of argininosuccinic aciduria.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Recurrent encephalopathy and hyperammonemia in new born: case of arginosuccinic aciduria

Singh

Gupta²

2018

Int J Contemp Pediatr

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“…40 Despite this, successful cases have been reported with this method of therapy. [41][42][43] One group managed to achieve a better ammonia clearance capacity by supplementing PD fluids with liposomes, significantly reducing ammonia levels and attenuating cerebral edema. 44…”

Section: Hyperammonemia Cerebral Edema and Peritoneal Dialysismentioning

confidence: 99%

“…PD is less efficient in removing ammonia, unlike other extracorporeal therapies such as HD or continuous veno‐venous hemodiafiltration (CVVHDF), 39 which achieve clearances of 0.47 mL/min (2.15 mL/min/m 2 ), much lower than the 7.45 to 10.5 mL/min obtained with continuous hemodialysis, but without the adverse effects such as hypotension and/or bleeding associated with intermittent therapy 40 . Despite this, successful cases have been reported with this method of therapy 41–43 . One group managed to achieve a better ammonia clearance capacity by supplementing PD fluids with liposomes, significantly reducing ammonia levels and attenuating cerebral edema 44 …”

Section: Current Understanding Of Pd As Continuous Therapy In Acute B...mentioning

confidence: 99%

Peritoneal dialysis and acute kidney injury in acute brain injury patients

Ramírez-Guerrero

Husain‐Syed

Ponce

et al. 2023

Seminars in Dialysis

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Acute kidney injury (AKI) is a heterogeneous syndrome with multiple etiologies. It occurs frequently in the neurocritical intensive care unit and is associated with greater morbidity and mortality. In this scenario, AKI alters the kidney–brain axis, exposing patients who receive habitual dialytic management to greater injury. Various therapies have been designed to mitigate this risk. Priority has been placed by KDIGO guidelines on the use of continuous over intermittent acute kidney replacement therapies (AKRT). On this background, continuous therapies have a pathophysiological rationale in patients with acute brain injury. A low‐efficiency therapy such as PD and CRRT could achieve optimal clearance control and potentially reduce the risk of secondary brain injury. Therefore, this work will review the evidence on peritoneal dialysis as a continuous AKRT in neurocritical patients, describing its benefits and risks so it may be considered as an option when deciding among available therapeutic options.

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