Results 111 to 120 of about 415 (137)

Hyperargininemia: Intellectual and motor improvement related to changes in biochemical data

The Journal of Pediatrics, 1991
Hyperargininemia is an inherited urea cycle disorder resulting from deficiency of arginase (EC 3.5.3.1). The clinical picture includes progressive spastic diplegia, mental retardation, and epilepsy. Acute episodes of vomiting, ataxia, and lethargy or agitation can also occur. Since the disorder was first described in 1969,1 various treatments have been
Lambert, M.A., Marescau, B., Desjardins, M., Laberge, M., Dhondt, J.-L., Dallaire, L., De Deyn, P.P., Qureshi, I.A.   +7 more
openaire   +3 more sources

Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia

Metabolic Brain Disease, 2018
Argininemia is a rare hereditary disease due to a deficiency of hepatic arginase, which is the last enzyme of the urea cycle and hydrolyzes arginine to ornithine and urea. Herein we report a patient with arginase I (ARG1) deficiency who presented with recurrent nonconvulsive status epilepticus and liver failure. A novel homozygous frameshift mutation c.
Aksoy, Erhan, Kasapkara, Çiğdem Seher, Akcaboy, Meltem, Sahin, Gülseren Evirgen, Derinkuyu, Betul Emine, CEYLANER, SERDAR, Senel, SALİHA, Yucel, Husniye   +7 more
openaire   +4 more sources

Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia

Molecular Genetics and Metabolism, 2008
In humans, arginase I (AI)-deficiency results in hyperargininemia, a metabolic disorder with symptoms of progressive neurological and intellectual impairment, spasticity, persistent growth retardation, and episodic hyperammonemia. A deficiency of arginase II (AII) has never been detected and the clinical disorder, if any, associated with its deficiency
Deignan, Joshua L., Marescau, Bart, Livesay, Justin C., Iyer, Ramaswamy K., De Deyn, Peter P., Cederbaum, Stephen D., Grody, Wayne W.   +6 more
openaire   +3 more sources

Brain MRI and Magnetic Resonance Spectroscopy Findings in Patients with Hyperargininemia

Journal of Neuroimaging, 2012
ABSTRACTBACKGROUND AND PURPOSEHyperargininemia (HA) is a rare autosomal recessive metabolic disorder and the neuroimaging features of this disease have seldom been reported. Hyperammonemic encephalopathy is uncommon in HA, and the clinical presentation of HA is distinct from other urea cycle disorders.
Daniel R, Carvalho, Luciano, Farage, Bernardo Jaf, Martins, Jaime M, Brum, Carlos E, Speck-Martins, Riccardo, Pratesi   +5 more
openaire   +2 more sources

Ammonia metabolism in a family affected by hyperargininemia.

Diabete & metabolisme, 1981
A French-Canadian family, with a 14-year old mentally retarded girl, was investigated for hyperargininemia. The girl showed a fasting plasma ammonia N concentration of 100 micrograms/dl (normal : 50.5 +/- 13 micrograms/dl), and a two-hour post protein load level of 183 micrograms/dl (normal : 51.6 +/- 17.6 micrograms/dl).
I A, Qureshi, J, Letarte, R, Ouellet, M, Lelièvre, C, Laberge   +4 more
openaire   +1 more source

Hyperargininemia: Treatment with Sodium Benzoate and Phenylacetic Acid

1985
Hyperargininemia is a rare hereditary disorder of the urea cycle due to arginase deficiency. This disorder is the most uncommon among five inborn errors resulting from enzyme deficiencies of the urea cycle. Hyperargininemia was first described by Terheggen et al.
Naoki Mizutani, Mitsuo Maehara, Chiemi Hayakawa, Tomoaki Kato, Kazuyoshi Watanabe, Sakae Suzuki   +5 more
openaire   +1 more source

Hyperargininemia, epilepsy and the metabolism of guanidino compounds.

Padiatrie und Grenzgebiete, 1989
Patients with hyperargininemia have an arginase deficiency which leads to blockade of the urea cycle in the last step with several clinical symptoms. Owing to the arginase deficiency this patients accumulate arginine which leads to eventual alternative yet unknown pathways of arginine metabolism.
P, Wiechert, B, Marescau, P P, De Deyn, A, Lowenthal   +3 more
openaire   +1 more source

A simple screening test for arginase deficiency (hyperargininemia).

The Journal of laboratory and clinical medicine, 1977
A simple fluorescent spot screening test has been developed for the identification of individuals with arginase deficiency (hyperargininemia). The assay is based on the coversion of arginine to ornithine and urea by arginase present in 1/8 inch disc of dried blood on filter paper.
E W, Naylor, A P, Orfanos, R, Guthrie
openaire   +1 more source

Human hyperargininemia: a mutation not expressed in skin fibroblasts?

American journal of human genetics, 1977
Arginase specific activity in the fibroblasts from three hyperargininemia patients is similar to that in controls. Kinetic features, pH-optimum, effect of Mn++, apparent Km values and DEAE- and CM-cellulose chromatography isozymes are identical in either cell type.
A F, Van Elsen, J G, Leroy
openaire   +1 more source

Spastic Gait, Intellectual Disability and Seizures Due to a Rare Mutation Causing Hyperargininemia

Clinical Neurology and Neurosurgery, 2021
Nikoletta Smyrni, Nikolaos Grigoriadis, Christos Bakirtzis   +2 more
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