Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency. 2002

Toshihiko Mori, and Kazushige Nagai, and Michio Mori, and Masayoshi Nagao, and Masakatsu Imamura, and Mikio Iijima, and Keiko Kobayashi
Department of Pediatrics, Otaru Kyokai Hospital, 1-6-15 Suminoe, Otaru, Hokkaido 047-8510, Japan. toshihiko_mori@smc.mhc.east.ntt.co.jp

A 4-month-old boy, with late-onset argininosuccinate lyase (ASL) deficiency with hepatomegaly, was treated by protein restricted diet and arginine supplementation; he was followed for 3 years. Hepatomegaly and mild liver dysfunction persisted without significant hyperammonemia. He maintained normal psychomotor development to the age of 12 months, but, at 3 years of age, his developmental status is in the borderline normal range. Liver biopsy performed at 12 months of age demonstrated swollen and pale hepatocytes with abnormal glycogen deposition and mild periportal fibrosis. A subsequent liver biopsy at 3 years of age showed progressive liver fibrosis in the periportal and central areas, which extended into the liver lobule. These findings suggest that liver impairment in ASL deficiency may advance without significant hyperammonemia and underline the importance of repeated liver biopsy in this disorder, even when the plasma ammonia level is well controlled.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008099 Liver A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances. Livers
D008103 Liver Cirrhosis Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules. Cirrhosis, Liver,Fibrosis, Liver,Hepatic Cirrhosis,Liver Fibrosis,Cirrhosis, Hepatic
D008137 Longitudinal Studies Studies in which variables relating to an individual or group of individuals are assessed over a period of time. Bogalusa Heart Study,California Teachers Study,Framingham Heart Study,Jackson Heart Study,Longitudinal Survey,Tuskegee Syphilis Study,Bogalusa Heart Studies,California Teachers Studies,Framingham Heart Studies,Heart Studies, Bogalusa,Heart Studies, Framingham,Heart Studies, Jackson,Heart Study, Bogalusa,Heart Study, Framingham,Heart Study, Jackson,Jackson Heart Studies,Longitudinal Study,Longitudinal Surveys,Studies, Bogalusa Heart,Studies, California Teachers,Studies, Jackson Heart,Studies, Longitudinal,Study, Bogalusa Heart,Study, California Teachers,Study, Longitudinal,Survey, Longitudinal,Surveys, Longitudinal,Syphilis Studies, Tuskegee,Syphilis Study, Tuskegee,Teachers Studies, California,Teachers Study, California,Tuskegee Syphilis Studies
D008297 Male Males
D008661 Metabolism, Inborn Errors Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors
D006529 Hepatomegaly Enlargement of the liver. Enlarged Liver,Liver, Enlarged
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001120 Arginine An essential amino acid that is physiologically active in the L-form. Arginine Hydrochloride,Arginine, L-Isomer,DL-Arginine Acetate, Monohydrate,L-Arginine,Arginine, L Isomer,DL Arginine Acetate, Monohydrate,Hydrochloride, Arginine,L Arginine,L-Isomer Arginine,Monohydrate DL-Arginine Acetate
D056807 Argininosuccinic Aciduria Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder. Arginino Succinase Deficiency,ASA Deficiency,ASL Deficiency,Argininosuccinase Deficiency,Argininosuccinate Acidemia,Argininosuccinate Lyase Deficiency,Argininosuccinic Acid Lyase Deficiency,Argininosuccinic Acidemia,Argininosuccinicaciduria,Argininosuccinyl-Coa Lyase Deficiency,Arginosuccinase Deficiency,Asauria,Inborn Error of Urea Synthesis, Arginino Succinic Type,Urea Cycle Disorder, Arginino Succinase Type,ASA Deficiencies,ASL Deficiencies,Acidemia, Argininosuccinate,Acidemias, Argininosuccinate,Aciduria, Argininosuccinic,Acidurias, Argininosuccinic,Arginino Succinase Deficiencies,Argininosuccinate Acidemias,Argininosuccinate Lyase Deficiencies,Argininosuccinic Acidurias,Argininosuccinicacidurias,Deficiencies, ASA,Deficiencies, ASL,Deficiencies, Arginino Succinase,Deficiencies, Argininosuccinate Lyase,Deficiency, ASA,Deficiency, ASL,Deficiency, Arginino Succinase,Deficiency, Argininosuccinate Lyase

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