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Objectives: Ornithine transcarbamylase deficiency (OTCD) is the most common inborn error of the urea cycle, caused by mutations in the OTC gene located on the X chromosome. OTCD presents in early and late-onset forms, with variable severity. Despite the high genetic heterogeneity, genotype-phenotype correlations help in prognosis and treatment planning. This study presents a novel missense mutation in an Iranian girl with OTCD, occurring de novo , contributing to the understanding of the disease's genetic landscape., Case Presentation: A 2-year-old girl from a consanguineous marriage presented with nausea, recurrent vomiting, and seizure. Elevated plasma ammonia, liver enzyme tests, and hepatomegaly suggested metabolic disorders. Following whole exome test, a novel heterozygous missense mutation in exon 7 of the OTC gene (c.674C>T) was identified in the patient. Despite maternal and paternal testing, no mutation was detected., Conclusions: Identifying new mutations in populations helps mitigate the high mortality rates associated with OTCD hyperammonemic episodes and provides the best course of treatment, especially considering the diverse phenotypic variations., (© 2024 Walter de Gruyter GmbH, Berlin/Boston.)

Objectives: Pseudohypoaldosteronism type 1 (PHA1) has two genetically distinct variants, including renal and systemic forms. Systemic PHA type I (PHA1B) has varying degrees of clinical presentation and results from mutations in genes encoding subunits of the epithelial sodium channel (ENaC) including the alpha, beta, and gamma subunits. To date, about 45 variants of PHA1B have been identified., Case Presentation: We report a boy with PHA1B, who presented with vomiting, lethargy, and poor feeding due to salt wasting six days after birth. The patient had electrolyte imbalances. A novel SCNN1A (sodium channel epithelial subunit alpha) gene mutation, NM_001038.6:c.1497G>C, with an autosomal recessive pattern, was identified by whole exosome sequencing. This variant was inherited as a homozygote from both heterozygous parents., Conclusions: PHA should be considered in neonates with hyponatremia and hyperkalemia. This case report presents a patient with a novel mutation in SCNN1A that has not been previously reported. Long-term follow-up of identified patients to understand the underlying phenotype--genotype link is necessary., (© 2024 Walter de Gruyter GmbH, Berlin/Boston.)