Results 21 to 30 of about 1,894 (150)

Citrullinemia. Clinical experience with 23 cases

The Turkish Journal of Pediatrics, 1998
A retrospective study was performed on the clinical outcome of 23 patients with citrullinemia diagnosed during the last 20 years in our clinic. The study group consisted of 13 patients with the neonatal form of the disease, four patients with the ...
A Tokatli, T Coşkun, I Ozalp
doaj   +2 more sources

Citrullinemia with an atypical presentation: Paroxysmal hypoventilation attacks

Journal of Pediatric Neurosciences, 2018
Citrullinemia type 1 (CTLN1) is a rare inherited urea cycle disorder, which resulted from the deficiency of argininosuccinate synthetase enzyme. We presented an infant who was hospitalized because of acute losses of tonus and cyanotic hypoventilation ...
Zeynep Öztürk, Tuğba Hirfanoğlu, Aslı İnci, İlyas Okur, Esin Koç, Leyla Tümer, Ebru Arhan, Kürşad Aydın, Ayşe Serdaroğlu   +8 more
doaj   +2 more sources

Rare Adult-onset Citrullinemia Type 1 in the Postpartum Period: A Case Report [PDF]

Clinical Practice and Cases in Emergency Medicine, 2023
Introduction: Citrullinemia type 1 (CTLN1) is a urea cycle disorder caused by defective argininosuccinate synthetase leading to impaired ammonia elimination.
Michael Borsuk, Mathew Saab, Michael Tobin   +2 more
doaj   +2 more sources

Adult-onset type II citrullinemia: Current insights and therapy

The Application of Clinical Genetics, 2018
Kiyoshi Hayasaka,1,2 Chikahiko Numakura1 1Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan; 2Department of Pediatrics, Miyukikai Hospital, Kaminoyama, Japan Abstract: Citrin deficiency is a recessively inherited metabolic
Hayasaka K, Numakura C
doaj   +1 more source

Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD). [PDF]

JIMD Rep
ABSTRACT Both citrin deficiency (CD) and citrullinemia type I (CTLN1) may be detected by elevated citrulline through newborn screening (NBS) or present as acute liver failure in later infancy, but they differ significantly in management. This may pose therapeutic challenges in the early period after presentation while awaiting diagnostic confirmation ...
Chan HY, Wong R, Fung CW, Belaramani KM, Mak CM, Yeung M, Chan T, Yeung C, Kwok Y, Kwok AM.   +9 more
europepmc   +2 more sources

Early prediction of phenotypic severity in Citrullinemia Type 1

Annals of Clinical and Translational Neurology, 2019
Objective Citrullinemia type 1 (CTLN1) is an inherited metabolic disease affecting the brain which is detectable by newborn screening. The clinical spectrum is highly variable including individuals with lethal hyperammonemic encephalopathy in the newborn
Matthias Zielonka, Stefan Kölker, Florian Gleich, Nicolas Stützenberger, Sandesh C. S. Nagamani, Andrea L. Gropman, Georg F. Hoffmann, Sven F. Garbade, Roland Posset, the Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E‐IMD) Consortia Study Group   +9 more
doaj   +2 more sources

Cholestatic Liver Failure and Hypoglycemia in a Newborn: A Mitochondrial Pathology due to Citrin Deficiency. [PDF]

Clin Case Rep
ABSTRACT In an infant with cholestasis and recurrent hypoglycemia, the combination of hypercitrullinemia, hypermethioninemia, and hyperthreoninemia should prompt testing for citrin deficiency, because early metabolic and genetic diagnosis allows targeted nutritional treatment and rapid clinical improvement.
Neveu J, Butori M, Spraul A, Hinault-Boyer C, Naïmi M.   +4 more
europepmc   +2 more sources

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients. [PDF]

Clin Genet
Genetic hepatic cholestasis: NGS diagnostic yield. Over a 10‐year period, NGS (gene panel/WES) established a genetic diagnosis in 70% of 66 families with hepatic cholestasis, with a molecular yield of 62%. ABCB11 was the most mutated gene, and PFIC Type 2 was the leading diagnosis, underscoring the critical role of NGS in guiding genetic counseling and
Abdmouleh A, Jilani H, Rejeb I, Hizem S, Pottier N, Larrue R, Arondal W, Hanquet L, Benrabeh R, Bouyahia O, Mazigh S, Elaribi Y, Benjemaa L.   +12 more
europepmc   +2 more sources

High Intrahepatic cccDNA in Resolved HBV Infection: Insights From Living Donor Liver Transplantation With Anti-HBc-Positive Grafts. [PDF]

J Gastroenterol Hepatol
ABSTRACT Aim In hepatitis B surface antigen (HBsAg)‐negative recipients with antibody to hepatitis B core antigen (anti‐HBc)‐positive liver grafts, hepatitis B virus (HBV) can be reactivated under post‐transplant immunosuppression. We recently reported a median intrahepatic covalently closed circular DNA (cccDNA) level of 238 copies/μg in HBsAg ...
Bae SK, Akamatsu N, Ichida A, Nishioka Y, Inagaki Y, Miyake N, Takamoto T, Kawaguchi Y, Tamura S, Arita J, Kaneko J, Otsuka M, Tanaka Y, Yotsuyanagi H, Moriya K, Hasegawa K.   +15 more
europepmc   +2 more sources

Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I

Frontiers in Neurology, 2023
In this case study, we report the case of a 13-year-old girl with citrullinemia type 1 (MIM #215700), an autosomal recessive inherited disorder of the urea cycle, which was confirmed by the identification of a homozygous pathogenic variant in the ...
Audrey Pontrucher, Magalie Barth, Alban Ziegler, Alban Ziegler, Juan Manuel Chao de la Barca, Delphine Mirebeau-Prunier, Pascal Reynier, Chadi Homedan   +7 more
doaj   +1 more source