Successful management of a neonate with OTC deficiency presenting with hyperammonemia and severe cardiac dysfunction with extracorporeal membrane oxygenation support and continuous renal replacement therapy [PDF]
JIMD Reports, 2020 Ornithine transcarbamylase (OTC) deficiency is an X‐linked urea cycle disorder which—in severe form—results in rapid accumulation of ammonia and glutamine with subsequent irreversible brain injury. We present a case of severe left ventricular dysfunction
Adrian C. Mattke +4 more
doaj +3 more sources
A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing [PDF]
Molecular Genetics and Metabolism Reports, 2021 Pathogenic variants in non-coding regions of genes encoding enzymes or transporters of the urea cycle can lead to urea cycle disorders (UCDs). However, not all commercially available testing platforms interrogate these regions. Here, we used a gene panel
Runjun D. Kumar +6 more
doaj +4 more sources
Effect of Ornithine Transcarbamylase (OTC) Deficiency on Pregnancy and Puerperium [PDF]
Diagnostics, 2022 Ornithine transcarbamylase (OTC) deficiency is the most common inherited metabolic disorder in urea cycles with an incidence of 1:14,000 live births.
Rastislav Sysák +5 more
doaj +2 more sources
Meiotic recombination observed through preimplantation genetic testing for two X-linked conditions: first reported case in humans [PDF]
F&S ReportsObjective: To report a case of human meiotic recombination illustrated by the use of preimplantation genetic testing for monogenic disorders (PGT-M) in a female patient heterozygous for pathogenic variants in cis on the X chromosome, highlighting the ...
Anna Iversen, M.S., L.C.G.C. +6 more
doaj +2 more sources
Perioperative care in pediatric OTC deficiency and goldenhar syndrome: a case report [PDF]
Frontiers in PediatricsOrnithine transcarbamylase deficiency (OTCD) is an X-linked disorder disrupting the urea cycle in 1 per 56,000 births. Goldenhar syndrome (GS), characterized by craniofacial and vertebral anomalies, is seen in 1 per 3,000–5,000 births.
Daniela Torres Salazar +5 more
doaj +2 more sources
Biochemical, Clinical, and Functional Characterization of a Rare c.‐106C>A Promoter Region Variant in Late‐Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case Series [PDF]
JIMD ReportsOrnithine transcarbamylase (OTC) deficiency can present during the neonatal period, infancy, or adulthood. Late‐onset phenotypes are influenced by residual enzyme activity and OTC gene expression.
Samuel Quinn Tholl +9 more
doaj +2 more sources
Simultaneous X-chromosome inactivation and tissue-/cell-type-specific DNA methylation in the transcriptional regulatory region of the X-linked recessive disease gene OTC [PDF]
Clinical EpigeneticsBackground Variability in disease onset and severity among heterozygous females with X-linked recessive disorders, such as ornithine transcarbamylase (OTC) deficiency, may result from differences in the expression level of the normal allele caused by ...
Fuko Yamada +5 more
doaj +2 more sources
Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man. [PDF]
PLoS ONE, 2015 The spf/ash mouse model of ornithine transcarbamylase (OTC) deficiency, a severe urea cycle disorder, is caused by a mutation (c.386G>A; p.R129H) in the last nucleotide of exon 4 of the Otc gene, affecting the 5' splice site and resulting in partial use ...
Ana Rivera-Barahona +8 more
doaj +2 more sources
Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients [PDF]
Molecular Genetics & Genomic MedicineBackground Ornithine transcarbamylase deficiency (OTCD, MIM#311250) is a rare X‐linked urea cycle disorder causing hyperammonemia. While around 600 pathogenic OTC variants have been reported, cryptic changes like synonymous or in‐frame variants remain ...
Qingming Wang +5 more
doaj +2 more sources
Characterization of a Novel Conditional Knockout Mouse Model to Assess Efficacy of mRNA Therapy in the Context of Severe OTC Deficiency [PDF]
Molecular TherapyPatrick F Finn +2 more
exaly +2 more sources