Type II Citrullinemia Associated with Neutropenia

A 37-year-old Japanese man was admitted with delirium and hyperammonemia. He was diagnosed as having type II citrullinemia because of an elevated citrulline level on amino acid analysis and very low hepatic argininosuccinate synthetase activity. He also showed a low neutrophil count and a low serum...

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Veröffentlicht in:Internal Medicine 1995, Vol.34(7), pp.679-682
Hauptverfasser: KAMIYA, Yuji, HORIKOSHI, Tsutomu, TAKAGI, Hitoshi, OKADA, Shuichi, HASHIMOTO, Kohshi, KIDO, Chiyuki, TAKEHARA, Ken, NAGAMINE, Takeaki, SEKIGUCHI, Toshikazu, MORI, Masatomo
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container_end_page 682
container_issue 7
container_start_page 679
container_title Internal Medicine
container_volume 34
creator KAMIYA, Yuji
HORIKOSHI, Tsutomu
TAKAGI, Hitoshi
OKADA, Shuichi
HASHIMOTO, Kohshi
KIDO, Chiyuki
TAKEHARA, Ken
NAGAMINE, Takeaki
SEKIGUCHI, Toshikazu
MORI, Masatomo
description A 37-year-old Japanese man was admitted with delirium and hyperammonemia. He was diagnosed as having type II citrullinemia because of an elevated citrulline level on amino acid analysis and very low hepatic argininosuccinate synthetase activity. He also showed a low neutrophil count and a low serum level of granulocyte colony-stimulating factor. Reduced production of this cytokine and/or impairment of its feedback regulation by the neutrophil count may have played a role in the neutropenia of this patient. (Internal Medicine 34: 679-682, 1995)
doi_str_mv 10.2169/internalmedicine.34.679
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source J-STAGE Free; MEDLINE; EZB-FREE-00999 freely available EZB journals
subjects Adult
Argininosuccinate Synthase - deficiency
argininosuccinate synthetase
Biological and medical sciences
Citrulline - blood
granulocyte colony-stimulating factor
Granulocyte Colony-Stimulating Factor - deficiency
Humans
Male
Medical sciences
Metabolic diseases
Miscellaneous
Neutropenia - diagnosis
Neutropenia - etiology
Neutropenia - metabolism
Other metabolic disorders
title Type II Citrullinemia Associated with Neutropenia
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