所有图片(1)
About This Item
经验公式（希尔记法）:
C6H8O4
CAS号:
分子量:
144.13
Beilstein:
1722909
MDL號碼:
分類程式碼代碼:
41116107
PubChem物質ID:
NACRES:
NA.24
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品質等級
化驗
≥97.0% (HPLC)
mp
137-143 °C
應用
clinical testing
格式
neat
儲存溫度
2-8°C
InChI
1S/C6H8O4/c1-4(2-5(7)8)3-6(9)10/h2H,3H2,1H3,(H,7,8)(H,9,10)/b4-2+
InChI 密鑰
WKRBKYFIJPGYQC-DUXPYHPUSA-N
相关类别
生化／生理作用
3-Methylglutaconic aciduria (MGCA) is a group of metabolic disorders characterized by increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid. Five distinct forms of MGCA have been recognized. MGCA type 1 is caused by primary deficiency of the mitochondrial enzyme 3-methylglutaconyl-CoA hydratase (3-MGCH), resulting in a block of leucine degradation. In all other types, the activities of 3-MGCH and other enzymes of leucine degradation are normal and the MGCA is thought to be secondary to a defect in another pathway. MGCA type 2, also known as Barth syndrome, is an X-linked cardiomyopathy associated with skeletal myopathy, neutropenia, and growth retardation. MGCA type 3, also referred to as Costeff optic atrophy syndrome, is an autosomal recessive disorder caused by mutations in the gene OPA3. It is characterized by early-onset bilateral optic atrophy, later-onset extrapyramidal dysfunction. MGCA type 5 caused by mutation in the DNAJC19 gene, is characterized by early-onset dilated cardiomyopathy with conduction defects, nonprogressive cerebellar ataxia, testicular dysgenesis, and growth failure. MGCA type 4 is the unclassified type, which includes all other patients with MGCA.
訊號詞
Warning
危險聲明
危險分類
Eye Irrit. 2 - Skin Irrit. 2
儲存類別代碼
11 - Combustible Solids
水污染物質分類（WGK）
WGK 3
閃點（°F）
Not applicable
閃點（°C）
Not applicable
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分析证书(COA)
Lot/Batch Number
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Solution of a classical problem. Tautomerism and isomerism in the α-methylglutaconic acid series
Kagan, J., et al.
The Journal of Organic Chemistry, 40, 3085-3093 (1975)
Metabolic profiling of urinary organic acids by single and multicolumn capillary gas chromatography.
M F Lefevere et al.
Journal of chromatographic science, 27(1), 23-29 (1989-01-01)
High-resolution gas chromatography (HRGC) and gas chromatography/mass spectrometry (GC/MS) are the techniques of choice to determine the retention indices of more than 200 organic acids as their trimethylsilyl (TMS) or oxime-trimethylsilyl derivatives. Several types of apolar and semipolar fused-silica capillary
M Fontaine et al.
Clinica chimica acta; international journal of clinical chemistry, 255(1), 67-83 (1996-11-15)
We report clinical and biological investigations in two patients (twin brothers) with 2-methylacetoacetyl-CoA thiolase deficiency. Main clinical features included important staturo-ponderal delay, frequent infectious rhinopharyngitis episodes and an acute metabolic acidosis at the age of 4 years, this metabolic decompensation
M Duran et al.
Biomedical mass spectrometry, 9(1), 1-5 (1982-01-01)
The identification of (E)-2-methylglutaconic acid, a 'new' metabolite of isoleucine, is described. The substance was detected in urine samples from patients with propionic acidaemia, methylmalonic acidaemia and so-called beta-ketothiolase deficiency; in the majority of cases together with N-tiglylglycine. (E)-2-Methylglutaconic acid
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