infantile Refsum syndrome

乳児型レフスム症候群 IRD

WordNet

1. of or relating to infants or infancy; "infantile paralysis"
2. being or befitting or characteristic of an infant; "infantile games"
3. a pattern of symptoms indicative of some disease
4. a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

1. 《名詞の前にのみ用いて》幼時の / 子供じみた;子供らしい
2. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

UpToDate Contents

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• 1. ペルオキシソーム病 peroxisomal disorders
• 2. 遺伝性疾患に伴う神経障害 neuropathies associated with hereditary disorders
• 3. 先天性サイトメガロウイルス感染：臨床的特徴および診断 congenital cytomegalovirus infection clinical features and diagnosis
• 4. 遺伝性ニューロパチーの概要 overview of hereditary neuropathies
• 5. 肝細胞移植 hepatocyte transplantation

English Journal

• Phytanic acid attenuates insulin-like growth factor-1 activity via nitric oxide-mediated γ-secretase activation in rat aortic smooth muscle cells: possible implications for pathogenesis of infantile Refsum disease.

• Dhaunsi GS1, Alsaeid M1, Akhtar S2.
• Pediatric research.Pediatr Res.2017 Jan 11. doi: 10.1038/pr.2016.258. [Epub ahead of print]
• BACKGROUND: Infantile Refsum disease (IRD), a peroxisomal disease with defective phytanic acid oxidation, causes neurological impairment and development delay. Insulin-like growth factor-1 (IGF-1) regulates child development and to understand molecular mechanism(s) of IRD, we examined the effect of
• PMID 27886192

• Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease.

• Matsunami M1, Shimozawa N2, Fukuda A3, Kumagai T4, Kubota M4, Chong PF5, Kasahara M3.
• Pediatrics.Pediatrics.2016 Jun;137(6). pii: e20153102. doi: 10.1542/peds.2015-3102.
• Infantile Refsum disease (IRD) is a rare autosomal recessive disorder of peroxisome biogenesis characterized by generalized peroxisomal metabolic dysfunction, including accumulation of very long-chain fatty acids (VLCFAs) and phytanic acid (PA), as well as decreased plasmalogen contents (PL). An eff
• PMID 27221287

• Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections.

• Cardoso P1, Amaral ME1, Lemos S1, Garcia P1.
• BMJ case reports.BMJ Case Rep.2016 Apr 18;2016:10.1136/bcr-2015-214283. doi: 10.1136/bcr-2015-214283.
• Peroxisome biogenesis disorders are related to a spectrum of genetic diseases that range from severe Zellweger syndrome to milder infantile Refsum disease. Zellweger syndrome is characterised by dysmorphic features, severe hypotonia, seizures, failure to thrive, liver dysfunction and skeletal defect
• PMID 27090541

Japanese Journal

• Restoration of biochemical function of the peroxisome in the temperature-sensitive mild forms of peroxisome biogenesis disorder in humans

• Brain & development 22(1), 8-12, 2000-01-01
• NAID 10010096100

• 小児神経疾患における遺伝子診断の臨床応用と問題点　　ペルオキシソーム病

• 脳と発達 30(2), 128-133, 1998
• NAID 130004183228

• Bile Acid Profiles in a Peroxisomal D-3-Hydroxyacyl-CoA Dehydratase/D-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein Deficiency.

• The Journal of Biochemistry 122(3), 655-658, 1997
• NAID 130003533263

Related Links

• Refsum disease - Genetics Home Reference

Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms. The vision loss associated with Refsum disease is caused by an eye ...

• Orphanet: Infantile Refsum disease

Summary Disease definition Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa ...

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★リンクテーブル★

リンク元	「乳児型レフスム症候群」
関連記事	「infantile」「syndrome」

「乳児型レフスム症候群」

　　[★]

英

infantile Refsum syndrome

同

乳児型フィタン酸蓄積症 infantile phytanicacid storage disease

関

レフスム症候群

「infantile」

　　[★]

• adj.

• 乳児性の、乳児の、小児性の、小児型の

関

baby、infant、newborn infant、puerility、suckling、sucklings

　 　 　

「syndrome」

　　[★]

• n.

• 症候群