scholarly journals Disorders of phenylalanine and tyrosine metabolism

2020 ◽  
pp. 1-56
Author(s):  
Hind Alsharhan ◽  
Can Ficicioglu
Keyword(s):  
Tyrosine Metabolism

Electron Microscopic and Isozyme Study of a Case of Ochronosis

1972 ◽  
Vol 30 ◽  
pp. 88-89
Author(s):  
Jay W. Cha ◽  
Perry J. Melnick
Keyword(s):  
Benzene Ring ◽  
Enzyme System ◽  
Homogentisic Acid ◽  
Degenerative Changes ◽  
Acid Oxidase ◽  
Electron Microscopic ◽  
Tyrosine Metabolism ◽  
Collagenous Tissues

Hereditary ochronosis in very few cases has been examined electron microscopically or histochemically. In this disease homogentisic acid, a normal intermediary of tyrosine metabolism, forms in excessive amounts. This is believed to be due to absence or defective activity of homogentisic acid oxidase, an enzyme system necessary to break the benzene ring and to further break it down to fumaric and acetoacetic acids. Ochronotic pigment, a polymerized form of homogentisic acid, deposits mainly in mesenchymal tissues. There has been a question whether the pigment originates from the collagenous tissues, or deposits passively, where in contrast to melanin it induces degenerative changes.

The outcome of seven patients with hereditary tyrosinemia type 1

2016 ◽  
Vol 29 (10) ◽  
Author(s):  
Songul Gokay ◽  
Pembe Soylu Ustkoyuncu ◽  
Fatih Kardas ◽  
Mustafa Kendirci
Keyword(s):  
Clinical Symptoms ◽  
Age At Onset ◽  
Nodule Formation ◽  
First Year ◽  
Tyrosine Metabolism ◽  
Tyrosinemia Type 1 ◽  
Hereditary Tyrosinemia ◽  
Biochemical Imaging

AbstractBackground:Hereditary tyrosinemia type 1 (HT1) is a rare, inborn error of tyrosine metabolism. It is a fatal disorder without treatment. Early treatment may prevent acute liver failure, renal dysfunction, liver cirrhosis, hepatocellular carcinoma (HCC) and improves survival. The aim of the present study is to describe the clinical, biochemical, imaging and follow-up of seven patients with HT1 and to define the consequences of the late and interrupted treatment.Methods:A retrospective study was carried out with seven HT1 patients.Results:The median age at onset of clinical symptoms was 11.2 months (range, 3–28 months) and the median age at diagnosis was 22 months (range, 6–58 months). Liver enzymes and coagulation parameters were back to normal in all symptomatic patients in about 2 weeks. Alfa-fetoprotein (AFP) levels were normalized within the first year of therapy. Hypoechoic nodule formation was detected in two of the seven patients despite drug treatment without an increase of AFP and any dysplastic changes in the biopsies. One patient died due to metastatic HCC because of the late diagnosis and the poor compliance of the follow-up.Conclusions:This study showed once again that adherence to the treatment and a follow-up schedule of the patients are very important. Also it should not be forgotten that nodule formation can occur despite nitisinone treatment without an increase of AFP. Despite nitisinone treatment, HT1 patients still carry the risk of HCC. HCC must be detected before metastasis to other organs otherwise, patients may lose the chance for liver transplantation.

Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome

2015 ◽  
Vol 114 (3) ◽  
pp. 431-437 ◽  
Author(s):  
Ilya Gertsman ◽  
Jon A. Gangoiti ◽  
William L. Nyhan ◽  
Bruce A. Barshop
Keyword(s):  
Tyrosine Metabolism

scholarly journals Extensive Metabolite Profiling in the Unexploited Organs of Black Tiger for Their Potential Valorization in the Pharmaceutical Industry

Life ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. 544
Author(s):  
Jianfei Gao ◽  
Kangning Xiong ◽  
Wei Zhou ◽  
Weijie Li
Keyword(s):  
Acid Metabolism ◽  
Metabolite Profile ◽  
Industrial Applications ◽  
Targeted Metabolomics ◽  
Arginine Biosynthesis ◽  
Nutritional Values ◽  
Phenylpropanoid Biosynthesis ◽  
Tyrosine Metabolism ◽  
Organ Specific ◽  
Widely Targeted Metabolomics

Black tiger (Kadsura coccinea (Lem.)) has been reported to hold enormous pharmaceutical potential. The fruit and rhizome of black tiger are highly exploited in the pharmaceutical and other industries. However, the most important organs from the plant such as the leaf and stem are considered biowastes mainly because a comprehensive metabolite profile has not been reported in these organs. Knowledge of the metabolic landscape of the unexploited black tiger organs could help identify and isolate important compounds with pharmaceutical and nutritional values for a better valorization of the species. In this study, we used a widely targeted metabolomics approach to profile the metabolomes of the K. coccinea leaf (KL) and stem (KS) and compared them with the root (KR). We identified 642, 650 and 619 diverse metabolites in KL, KS and KR, respectively. A total of 555 metabolites were mutually detected among the three organs, indicating that the leaf and stem organs may also hold potential for medicinal, nutritional and industrial applications. Most of the differentially accumulated metabolites between organs were enriched in flavone and flavonol biosynthesis, phenylpropanoid biosynthesis, arginine and proline metabolism, arginine biosynthesis, tyrosine metabolism and 2-oxocarboxylic acid metabolism pathways. In addition, several important organ-specific metabolites were detected in K. coccinea. In conclusion, we provide extensive metabolic information to stimulate black tiger leaf and stem valorization in human healthcare and food.

DEVELOPMENTAL RETARDATION ASSOCIATED WITH AN ABNORMALITY IN TYROSINE METABOLISM

PEDIATRICS ◽  
1961 ◽  
Vol 28 (3) ◽  
pp. 399-409
Author(s):  
John H. Menkes ◽  
George A. Jervis
Keyword(s):  
Weight Gain ◽  
Clinical Improvement ◽  
Urinary Metabolites ◽  
Enzyme Defect ◽  
Developmental Retardation ◽  
Fetal Tissues ◽  
Tyrosine Metabolism ◽  
Hydroxyphenylacetic Acid

An infant with seizures, spasticity, and failure in weight gain was shown to excrete p-hydroxyphenylpyruvic acid, p-hydroxyphenyllactic acid, and p-hydroxyphenylacetic acid, indicating the likelihood of an impairment in the oxidation of p-hydroxyphenylpyruvate. Institution of a phenylalanine-free diet coincided with marked clinical improvement and disappearance of the abnormal urinary metabolites. The cause of the temporary enzyme defect is discussed, and it is concluded that it represents a persistence into extrauterine life of the relative enzyme inactivity observed in fetal tissues.

scholarly journals Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals

2015 ◽  
Vol 3 ◽  
pp. 232640981557396 ◽  
Author(s):  
Roseani Andrade ◽  
Vaneisse Monteiro ◽  
Cléber Cruz ◽  
Carla Silva ◽  
Adriana Bastos ◽  
...  
Keyword(s):  
Healthy Individuals ◽  
Tyrosine Metabolism ◽  
Metabolism Analysis
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