Results 21 to 30 of about 415 (137)
The Journal of Pediatrics, 1977 A 7 1/2-year-old boy had progressive psychomotor retardation, behavior disturbance, and spasticity, and had growth arrest from age three. Plasma arginine on a self-selected protein-poor diet was increased (4.05 mg/dl; nl 0.4 to 2.6), whereas urinary amino acid excretion was normal.
Stephen D. Cederbaum +2 more
core +3 more sources
Hyperargininemia with Arginase Deficiency [PDF]
Pediatric Research, 1979 Summary: A female and a male sibling aged 15 and 8 yr developed almost normally for 3 yr, then gradually deteriorated intellectually and physically. Both patients showed marked hyperargininuria (up to 370 times normal), prominent lysinuria, cystinuria, and ornithinuria, and a milder generalized amino aciduria.
G I Sugarman +5 more
core +3 more sources
Age-specific reference intervals for plasma amino acids and their associations with nutrient intake in the Chinese pediatric population. [PDF]
ImetaA total of 2901 healthy Chinese children aged 0–12 years were enrolled in the reference group; 102 confirmed Phenylketonuria cases were included as validation individuals. Establishing the age‐specific reference intervals of 42 plasma amino acids in Chinese pediatric populations. Profiling dynamic interactions between multiple nutrient intake and amino
Wen Y +8 more
europepmc +2 more sources
Hyperargininemia experiences over last 7 years from a tertiary care center
Journal of Pediatric Neurosciences, 2019 Context: Several Enzymes carry out chemical reactions for the production of energy and carrying out normal functioning of the organism. Disorders of these functions can result in permanent damage to the child affecting multiple systems.
Sadanandavalli Retnaswami Chandra +3 more
doaj +2 more sources
Arginase deficiency presenting as acute encephalopathy
Journal of Pediatric Neurosciences, 2019 Urea cycle disorders are rare metabolic disorders that present as encephalopathy with hyperammonemia. Arginase deficiency causing hyperargininemia is one among the urea cycle disorders, which usually presents as spastic diplegia.
Leema Pauline Cornelius +2 more
doaj +2 more sources
Strategies to rescue the consequences of inducible arginase-1 deficiency in mice. [PDF]
PLoS ONE, 2015 Arginase-1 catalyzes the conversion of arginine to ornithine and urea, which is the final step of the urea cycle used to remove excess ammonia from the body.
Laurel L Ballantyne +9 more
doaj +3 more sources
Proof-of-Concept Gene Editing for the Murine Model of Inducible Arginase-1 Deficiency [PDF]
Scientific Reports, 2017 Arginase-1 deficiency in humans is a rare genetic disorder of metabolism resulting from a loss of arginase-1, leading to impaired ureagenesis, hyperargininemia and neurological deficits. Previously, we generated a tamoxifen-inducible arginase-1 deficient
Yuan Yan Sin +3 more
doaj +2 more sources
Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia. [PDF]
Cold Spring Harb Mol Case Stud, 2022 INTRODUCTION: Argininemia or arginase deficiency is a metabolic disorder caused by pathogenic variants in ARG1 and consists of a variable association of progressive spastic paraplegia, intellectual disability, and seizures. Hereditary spastic paraplegia (
Freua F +11 more
europepmc +3 more sources
Experimental model of hyperargininemia
Okayama Igakkai Zasshi (Journal of Okayama Medical Association), 1978 Sadayoshi SUWAKI
core +3 more sources