| アイテムタイプ |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2025-07-21 |
| タイトル |
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タイトル |
Methylmalonic acidemia with recurrent hemophagocytic lymphohistiocytosis: a case report and review of the literature |
|
言語 |
en |
| 言語 |
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|
言語 |
eng |
| キーワード |
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|
言語 |
en |
|
キーワード |
Ferritin |
| キーワード |
|
|
言語 |
en |
|
キーワード |
Metabolic attack |
| キーワード |
|
|
言語 |
en |
|
キーワード |
Methylmalonic acidemia |
| キーワード |
|
|
言語 |
en |
|
キーワード |
Secondary hemophagocytic lymphohistiocytosis |
| 資源タイプ |
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資源タイプ |
journal article |
| アクセス権 |
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アクセス権 |
open access |
| 著者 |
Yamashita, Fumiya
Akamine, Satoshi
Chong, Pin Fee
前田, 謙一
WEKO
35422
e-Rad_Researcher
20914732
| ja |
前田, 謙一
宮崎大学
|
| ja-Kana |
マエダ, ケンイチ
|
| en |
Maeda, Kenichi
University of Miyazaki
|
Search repository
Kawakami, Saori
Lee, Sooyoung
Ishimura, Masataka
Murayama, Kei
Sakai, Yasunari
Kira, Ryutaro
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| 抄録 |
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内容記述タイプ |
Abstract |
|
内容記述 |
Background
Methylmalonic acidemia is a rare autosomal recessive disorder of propionate catabolism characterized by the accumulation of propionic acid and methylmalonic acid caused by methylmalonyl-CoA mutase deficiency. Clinical presentations range from acute deterioration in the neonatal period to later onset with a heterogeneous clinical course. Metabolite accumulation results in systemic involvement, affecting the nervous, gastrointestinal, and renal system functions and causing cardiomyopathy. Bone marrow dysfunction manifesting as neutropenia and anemia is a common hematological finding. Although rare, three cases of secondary hemophagocytosis were documented.
Case presentation
An 18-year-old male patient diagnosed with methylmalonic acidemia presented with vomiting and altered mental status. He had a medical history of presumably hemophagocytic lymphohistiocytosis (HLH) at the age of 17 months. Physical examination, laboratory tests, and bone marrow aspiration results met the HLH-2004 diagnostic criteria, confirming a recurrent HLH. Although he recovered after intensive treatment, his cognitive function declined. Retrospective analysis revealed higher serum levels of ferritin during acute decompensations compared with nonattack periods. Correlation analysis revealed a strong relationship between serum ferritin and propionylcarnitine, one of the major propionyl-CoA-derived metabolites.
Conclusions
HLH is a rare and underrecognized hematologic emergency in methylmalonic acidemia, and its early diagnosis and treatment are critical. Serum ferritin may be a useful clinical biomarker in the diagnosis of HLH-associated attacks in methylmalonic acidemia. |
|
言語 |
en |
| 書誌情報 |
en : BMC Pediatrics
巻 25,
p. 259,
発行日 2025-03-31
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| 出版者 |
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出版者 |
Springer Science and Business Media LLC |
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言語 |
en |
| ISSN |
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収録物識別子タイプ |
EISSN |
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収録物識別子 |
14712431 |
| DOI |
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関連タイプ |
isVersionOf |
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|
識別子タイプ |
DOI |
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関連識別子 |
https://doi.org/10.1186/s12887-025-05613-9 |
| 著者版フラグ |
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出版タイプ |
VoR |
Fulltext (1.3 MB)
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