Citrullinemia stimulation test in the evaluation of the intestinal function [PDF]
Nutrición Hospitalaria, 2013 Background: Citrullinemia is been reported as a quantitative parameter of the enterocyte mass and function. Aim: The objective of this research is to analyse the value of fasting and stimulated citrullinemias in the intestinal function evaluation ...
Beatriz Pinto Costa +5 more
doaj +3 more sources
First manifestation of citrullinemia type I as Sandifer syndrome [PDF]
The Turkish Journal of Pediatrics, 2017 We report an eleven-month-old infant girl who presented as Sandifer syndrome clinically but was later diagnosed with citrullinemia type I. Metabolic evaluation and molecular analysis confirmed the correct diagnosis.
Mustafa Kılıç +5 more
doaj +2 more sources
ASS1 gene mutation in a neonate with citrullinemia type Ⅰ [PDF]
Jichu yixue yu linchuang, 2020 Objective To detect blood acylcarnitine and genes in a newborn with suspected citrullinemia, and to detect gene mutations in their parents, so as to clarify their diagnosis and follow-up investigations.
LYU Ya-nan, SONG Dong-po, WANG Wei-qing, CHEN Yan-ping
doaj +1 more source
A Case of Acrodermatitis Dysmetabolica in a Child Affected by Citrullinemia Type I: When Early Diagnosis and Timely Treatment Are Not Enough [PDF]
Children, 2023 An infant with a prenatal diagnosis of citrullinemia, who started standard treatment at birth (L-arginine; sodium benzoate and a personalized diet characterized by a low protein intake and supplementation of essential nutrients and amino acids ...
Laura Bruni +7 more
doaj +3 more sources
Molecular Therapy: Methods & Clinical Development, 2023 Citrullinemia type I is a rare autosomal-recessive disorder caused by deficiency of argininosuccinate synthetase (ASS1). The clinical presentation includes the acute neonatal form, characterized by ammonia and citrulline accumulation in blood, which may ...
Michela Lisjak +8 more
doaj +2 more sources
Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G > A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series [PDF]
International Journal of Reproductive BioMedicine, 2022 Background: Citrullinemia type 1 is an autosomal recessive disease resulting in ammonia accumulation in the blood, and if uncontrolled may progress to coma or death in the early months after birth.
Maryam Hassanlou +2 more
doaj +2 more sources
Electroencephalography and transcranial Doppler ultrasonography in neonatal citrullinemia
Journal of the Formosan Medical Association, 2014 The authors present a case of citrullinemia with a genotype of argininosuccinate synthetase (ASS1), c.380 G>A (p.R127Q)/c.380 G>A (p.R127Q), in two alleles. A 3-day-old female infant presented with status epilepticus and coma.
Pen-Hua Su +5 more
doaj +2 more sources
Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant
Clinics and Practice, 2013 Citrullinemia type I (CTLN1) is an inherited urea cycle disorder, now included in most newborn screening panels in the US and Europe. Due to argininosuccinate synthetase deficiency, CTLN1 can lead to recurrent hyperammonemic crisis that may result in ...
Yoona Rhee +3 more
doaj +2 more sources
High Blood Pressure in a Urea Cycle Disorder: Case Report
American Journal of Perinatology Reports, 2020 Introduction Urea cycle disorders (UCDs) form a group of metabolic pathological conditions that might develop serious neurological consequences. Early diagnosis, before irreversible damage is established, is the most important prognostic and morbidity ...
Carolina Solé +2 more
doaj +2 more sources
Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants [PDF]
Molecular Genetics & Genomic Medicine, 2023 Background Citrullinemia type 1 (CTLN1) is a rare autosomal recessive disease caused by argininosuccinate synthetase (ASS) deficiency. Manifestations vary from the acute neonatal or “classic” form to a milder, late‐onset, or “unconventional” form.
Melissa Daou +9 more
doaj +2 more sources