inborn metabolic brain disease

• 先天性代謝性脳疾患

WordNet

1. an impairment of health or a condition of abnormal functioning
2. kill by smashing someones skull
3. mental ability; "hes got plenty of brains but no common sense" (同)brainpower, learning_ability, mental capacity, mentality, wit
4. that part of the central nervous system that includes all the higher nervous centers; enclosed within the skull; continuous with the spinal cord (同)encephalon
5. the brain of certain animals used as meat
6. hit on the head
7. of or relating to metabolism; "metabolic rate"
8. undergoing metamorphosis (同)metabolous
9. caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

PrepTutorEJDIC

1. (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
2. 女性の話術芸人 =diseur
3. 『脳』,脳髄 / 《しばしば複数形で》『頭脳』,『知力』 / 《話》秀才,知的指導者 / …‘の'頭を打ち砕く
4. 新陳代謝の
5. 病気にかかった / 病的な,不健全な(morbid)
6. 生まれつきの,先天的な

UpToDate Contents

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• 1. 先天性代謝異常：代謝性救急疾患 inborn errors of metabolism metabolic emergencies
• 2. 慢性腎臓病における代謝性アシドーシスの病因、影響、および治療 pathogenesis consequences and treatment of metabolic acidosis in chronic kidney disease
• 3. 心血管疾患と同等のリスクと確立した危険因子の概要 overview of the risk equivalents and established risk factors for cardiovascular disease
• 4. 新生児脳症の病因および発症機序 etiology and pathogenesis of neonatal encephalopathy
• 5. もやもや病：病因、臨床的特徴、および診断 moyamoya disease etiology clinical features and diagnosis

English Journal

• 3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation.

• Köksal T1, Gündüz M, Özaydın E, Azak E.
• Indian journal of pediatrics.Indian J Pediatr.2015 Jul;82(7):645-8. doi: 10.1007/s12098-015-1722-6. Epub 2015 Feb 25.
• 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency, an inborn error of ketone body synthesis and leucine degradation, is a rare autosomal recessive disease. There are a few reports demonstrating clinical and neuroradiologic findings of this condition. The authors report case of an 8-mo
• PMID 25708061

• Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder.

• Bhat MD1, Bindu PS, Christopher R, Prasad C, Verma A.
• Metabolic brain disease.Metab Brain Dis.2015 Jun 4. [Epub ahead of print]
• Biotinidase deficiency is one of the few treatable inborn errors of metabolism. We describe unique MRI features in two patients with biotinidase deficiency. Brain MRI in case one demonstrated symmetrical diffusion restriction in bilateral hippocampi, parahippocampal gyri, central tegmental tracts, a
• PMID 26037171

• Structural Brain Defects.

• Whitehead MT1, Fricke ST2, Gropman AL3.
• Clinics in perinatology.Clin Perinatol.2015 Jun;42(2):337-361. doi: 10.1016/j.clp.2015.02.007. Epub 2015 Apr 4.
• Up to 14% of patients with congenital metabolic disease may show structural brain abnormalities from perturbation of cell proliferation, migration, and/or organization. Most inborn errors of metabolism have a postnatal onset. Abnormalities from genetic disease processes have a prenatal onset. Energy
• PMID 26042908

Japanese Journal

• Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults

• KOHLSCHUTTER Alfried,BLEY Annette,BROCKMANN Knut,GARTNER Jutta,KRAGELOH-MANN Ingeborg,ROLFS Arndt,SCHOLS Ludger
• Brain
• NAID 10027212606

• Type 2 Gaucher disease : 15 new cases and review of the literature

• MIGNOT Cyril,DOUMMAR Diana,MAIRE Irene,DE VILLEMEUR Thierry Billette
• Brain
• NAID 10017319215

• Effective immunoglobulin therapy for brief tonic seizures in methylmalonic acidemia

• AIKOH Hiroshi,SASAKI Masayuki,SUGAI Kenji,YOSHIDA Hiroshi,SAKURAGAWA Norio
• Brain
• NAID 10005962813

Related Links

• Metabolic Diseases - MeSH Result

... Congenital Antley-Bixler Syndrome Phenotype Ichthyosis, X-Linked Mineralocorticoid Excess Syndrome, Apparent Smith-Lemli-Opitz Syndrome 2: Brain Diseases, Metabolic, Inborn Brain disorders resulting from inborn metabolic errors, ...

• Inborn errors of metabolism: a cause of abnormal brain development.

The authors review the relationship between brain dysgenesis and specific inborn errors of metabolism. Peroxisomal disorders and fatty acid oxidation defects can produce migration defects. Pyruvate dehydrogenase deficiency, nonketotic ...

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★リンクテーブル★

リンク元	「先天性代謝性脳疾患」
関連記事	「disease」「metabolic」「brain disease」「inborn」「brain」

「先天性代謝性脳疾患」

　　[★]

英

inborn metabolic brain disease

「disease」

　　[★]

• n.

疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)

特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)

• something that is very wrong with people's attitudes, way of life or with society.

関

ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness

• 注意

disease ≠ illness ≠ disorder

　 　 　

「metabolic」

　　[★]

• adj.

• 代謝性の、代謝的な、メタボリックな

関

metabolically

　 　 　

「brain disease」

　　[★]

• 脳疾患

関

brain disorder、brain pathology、encephalopathia、encephalopathy

「inborn」

　　[★]

• adj.

• 先天的な

関

a priori、congenital、congenitally

　

「brain」

　　[★] 脳