更新于：2024-11-01

Valinemia

缬氨酸血症

更新于：2024-11-01

基本信息

别名

HYPERVALINEMIA、High blood valine concentration、Hypervalinaemia

+ [13]

简介

An increased concentration of valine in the blood. [HPO_CONTRIBUTOR:gcarletti]

关联

项与缬氨酸血症相关的药物

AZD-3839

靶点

BACE x BACE1

作用机制

BACE抑制剂 [+1]

在研机构

原研机构

在研适应症

非在研适应症

最高研发阶段临床前

首次获批国家/地区-

首次获批日期1800-01-20

项与缬氨酸血症相关的临床试验

NCT01348737 / Completed临床1期

A Phase I, Randomised, Double-blind, Placebo-controlled, Parallel-group Single Ascending Dose Study to Assess the Safety, Tolerability, Pharmacokinetics, and Effect on Biomarkers of AZD3839 Including an Open-label Food Effect Group in Healthy Male and Female Volunteers of Non-childbearing Potential

The purpose of the study is to assess the safety, tolerability and blood concentration of AZD3839 following oral administration of single doses in healthy men and women of non-childbearing potential

开始日期2011-06-01

申办/合作机构

AstraZeneca PLC

100 项与缬氨酸血症相关的临床结果

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100 项与缬氨酸血症相关的转化医学

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0 项与缬氨酸血症相关的专利（医药）

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项与缬氨酸血症相关的文献（医药）

2017-01-01·International Journal of Trichology

Prevalence of nutritional deficiencies in hair loss among Indian participants: Results of a cross-sectional study

Article

作者: Gowda, Dinesh ; Imtiyaz, D B ; Premalatha, V

BACKGROUNDNutritional deficiencies are known to be associated with hair loss; however, the exact prevalence is not known.AIMSThe aim of this study is to evaluate the prevalence of nutritional deficiencies in participants with hair loss.MATERIALS AND METHODSIn this cross-sectional study, 100 enrolled participants were divided into telogen effluvium (TE), male-pattern hair loss (MPHL), and female-pattern hair loss (FPHL) based on the type of hair loss. All participants underwent laboratory estimation for micronutrients and amino acid levels.RESULTSParticipants with hair loss showed varied amino acid and micronutrient deficiencies across all types of hair loss. Nutritional status did not vary much between the types of hair loss. Among the essential amino acids, histidine deficiency was seen in >90% of participants with androgenic alopecia and 77.78% of participants with TE while leucine deficiency was seen 98.15% of participants with TE and 100% with FPHL. Valine deficiency was also very common across alopecia subtypes. Among the nonessential amino acids, alanine deficiency was observed in 91.67% FPHL, 91.18% MPHL, and 90.74% TE. Cysteine deficiency was present in 55.58% and 50% of participants with MPHL and TE, respectively. A relatively higher proportion of participants with TE had iron deficiency compared to androgenic alopecia (P = 0.069). Zinc deficiency was seen in 11.76% of participants with MPHL while copper deficiency was seen in 29.41% and 31.48% of participants with MPHL and TE, respectively.CONCLUSIONNutritional deficiency is a common problem in participants with hair loss irrespective of the type of alopecia. The findings of our study suggest need for identification and correction of nutritional deficiencies in patients with hair loss.

2015-10-01·Amino Acids3区 · 生物学

Quantitative metabolic profiling of NMR spectral signatures of branched chain amino acids in blood serum

3区 · 生物学

Article

作者: Ghosh, Soumita ; Sengupta, Arjun ; Chandra, Kousik

Branched Chain Amino Acids (BCAAs) are related to different aspects of diseases like pathogenesis, diagnosis and even prognosis. While in some diseases, levels of all the BCAAs are perturbed; in some cases, perturbation occurs in one or two while the rest remain unaltered. In case of ischemic heart disease, there is an enhanced level of plasma leucine and isoleucine but valine level remains unaltered. In 'Hypervalinemia', valine is elevated in serum and urine, but not leucine and isoleucine. Therefore, identification of these metabolites and profiling of individual BCAA in a quantitative manner in body-fluid like blood plasma/serum have long been in demand. (1)H NMR resonances of the BCAAs overlap with each other which complicates quantification of individual BCAAs. Further, the situation is limited by the overlap of broad resonances of lipoprotein with the resonances of BCAAs. The widely used commercially available kits cannot differentially estimate the BCAAs. Here, we have achieved proper identification and characterization of these BCAAs in serum in a quantitative manner employing a Nuclear Magnetic Resonance-based technique namely T2-edited Correlation Spectroscopy (COSY). This approach can easily be extended to other body fluids like bile, follicular fluids, saliva, etc.

2015-09-01·Journal of Inherited Metabolic Disease2区 · 医学

Hypervalinemia and hyperleucine‐isoleucinemia caused by mutations in the branched‐chain‐amino‐acid aminotransferase gene

2区 · 医学

Article

作者: X. L. Wang ; C. J. Li ; Y. H. Yang ; J. P. Jia ; Y. Xing

AbstractValine, leucine, and isoleucine are essential branched chain amino acids (BCAAs). When BCAA metabolism is genetically impaired in human, serum levels of BCAA and/or their metabolites rise considerably, causing severe neurological dysfunction. The first step in BCAA catabolism is catalyzed by branched chain aminotransferase (BCAT). Hypervalinemia and hyperleucine‐isoleucinemia caused by BCAT gene mutation in human have not been reported previously. A 25‐year‐old man presented with headache complaints and mild memory impairment for about six years. Brain MRI showed symmetric white matter abnormal signals. Metabolic studies revealed remarkably elevated plasma valine and leucine concentrations. Maple syrup urine disease (MSUD) diagnosis was not supported since all genes for the branched‐chain α‐keto acid dehydrogenase complex (BCKD) gene were normal. Interestingly, two heterogeneous BCAT2 gene mutations were found in the patient, including c.509G > A (p.Arg170Gln) and c.790G > A (p.Glu264Lys). In addition, c.509G > A (p.Arg170Gln) and c.790G > A (p.Glu264Lys) were found in his father and mother, respectively, suggesting an autosomal recessive disorder. BCAT2 functional studies demonstrated that the two BCAT2 gene mutations resulted in decreased BCAT2 enzyme activity. After treatment with vitamin B6, the levels of BCAA, especially valine were remarkably decreased and brain MRI lesions were improved. These findings suggest a new type of branched chain amino acid metabolism disorder. This rare case provides great insight into the further understanding of BCAA metabolism and its defect in human. BCAT2 gene mutations can cause hypervalinemia and hyperleucine‐isoleucinemia, which are associated with brain white matter lesions.