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Current Status of Surviving Patients With Arginase 1 Deficiency in Japan

Molecular Genetics and Metabolism Reports, 2021
Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD), with an estimated frequency of 1 per 2,200,000 births in Japan. Patients with ARG1 deficiency develop symptoms in late infancy or pre-school age with progressive neurological ...
Kimitoshi Nakamura, Yoko Nakajima, Jun Kido   +2 more
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“Cerebral Palsy” in a Patient With Arginase Deficiency

Seminars in Pediatric Neurology, 2018
Inborn errors of metabolism (IEMs) are thought to present in infancy with acute decompensation including feeding intolerance and vomiting, lethargy, and coma. Most practitioners assume that children will be diagnosed in their first months of life.
Amanda, Jichlinski, Lindsay, Clarke, Matthew T, Whitehead, Andrea, Gropman   +3 more
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Arginase Deficiency Presenting as Cerebral Palsy

Pediatrics, 1993
Arginase catalyzes the conversion of arginine to ornithine and urea in the final step of the urea cycle. The enzyme deficiency disease, argininemia, is a rare autosomal recessive disorder which presents with progressive psychomotor retardation, growth failure, seizures, and spasticity affecting the lower extremities more than the upper.1 It does not ...
A E, Scheuerle, R, McVie, A L, Beaudet, S K, Shapira   +3 more
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Arginase deficiency in multiple tissues in argininemia

Clinical Genetics, 1978
A 59/12‐year‐old Mexican female with argininemia presented at 4 years of age with severe growth retardation, microcephaly, mental retardation, loss of ability to walk, spasticity and epileptiform electroencephalogram. At follow‐up, blood ammonia was elevated only twice out of 30 determinations. Blood arginine was 544 to 1,074 μmol/1 (normal 61 to 173);
V V, Michels, A L, Beaudet
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Urinary pyrimidine excretion in arginase deficiency

Journal of Inherited Metabolic Disease, 1981
AbstractA high‐performance liquid‐chromatographic method was used to separate and identify uracil, uridine, pseudouridine and orotic acid after preliminary extraction in two patients (McKusick 20780). Urinary uracil excretion was 10–35 times normal in both patients with arginase deficiency.
E W, Naylor, S D, Cederbaum
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Ornithine deficiency in the arginase double knockout mouse

Molecular Genetics and Metabolism, 2006
Knockout mouse models have been created to study the consequences of deficiencies in arginase AI and AII, both individually and combined. The AI knockout animals die by 14 days of age from hyperammonemia, while the AII knockout has no obvious phenotype.
Joshua L, Deignan, Justin C, Livesay, Paul K, Yoo, Stephen I, Goodman, William E, O'Brien, Ramaswamy K, Iyer, Stephen D, Cederbaum, Wayne W, Grody   +7 more
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Unsuccessful trial of gene replacement in arginase deficiency

European Journal of Pediatrics, 1975
The Shope virus following cutaneous inoculation produces skin papillomas in rabbits and induces a virus-coded arginase in the squameous epithelium of these papillomas. The only discernible effect of the virus inoculated intravenously in rabbits and other animals was a decrease of the serum arginine concentration.
H G, Terheggen, A, Lowenthal, F, Lavinha, J P, Colombo, S, Rogers   +4 more
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Prenatal diagnosis for arginase deficiency: A case study

Journal of Inherited Metabolic Disease, 2003
AbstractArginase deficiency is a rare, autosomal recessive, disorder of the urea cycle characterized by mild hyperammonaemia, hyperargininaemia, dibasic aminoaciduria and orotic aciduria, associated with progressive spastic tetraplegia, seizures, psychomotor retardation, and growth failure.
S, Hewson, J T R, Clarke, S, Cederbaum
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A new case of arginase deficiency in a Spanish male

Journal of Inherited Metabolic Disease, 1986
AbstractA new case of arginase deficiency is reported in a male newborn from Spain. In contrast with the majority of the earlier cases, this infant showed severe protein intolerance of early onset. The diagnosis was based on the assay of the urea cycle enzymes in a postmortem liver sample.
A, Jordá, V, Rubio, M, Portolés, J, Vilas, J, García-Piño   +4 more
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Arginase deficiency manifesting delayed clinical sequelae and induction of a kidney arginase isozyme

Human Genetics, 1993
Deficiency of liver arginase (AI) is characterized clinically by hyperargininemia, progressive mental impairment, growth retardation, spasticity, and periodic episodes of hyperammonemia. The rarest of the inborn errors of urea cycle enzymes, it has been considered the least life-threatening, by virtue of the typical absence of catastrophic neonatal ...
W W, Grody, R M, Kern, D, Klein, A E, Dodson, P B, Wissman, S H, Barsky, S D, Cederbaum   +6 more
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