A 1-year-old female with maple syrup urine disease presenting with erythematous, partially eroded plaques on the trunk, anogenital area, and extremities experienced metabolic crisis. The skin lesions appeared at 11 months of age and was thought to result from amino acid imbalance secondary to erratic supplementation of specialized milk formula devoid of isoleucine, leucine, and valine. Serial urine monitoring showed persistent ketones and elevated serum leucine and valine. The patient was managed with emollients, intralipid 20%, and addition of isoleucine and valine supplements to counter the neurotoxic effect of leucine. After 8 days of proper feeding and continuous emollient application, the lesions improved and skin biopsy revealed superficial perivascular dermatitis. Although a decrease in erythema and desquamation was noted, the patient had persistent cerebral edema and continued to deteriorate.

Trisomy 9p syndrome was first described by Rethore et al in 1970 and about 150 cases have been reported. The characteristic features of the partial trisomy 9p syndrome is clearly recognizable faces, which include microcephaly, facial deformities, skeletal and dermatoglyphic anomalies with variable degrees of mental retardation. The 3-ketothiolase deficiency was first described in 1971 and about 30 cases have been reported. The 3-ketothiolase deficeiency is an inborn error of isoleucine and ketone body catabolism that shows autosomal recessive traits, caused by a deficiency of mitochondrial acetoacetyl-coenzyme A thiolase(T2). We report a case of partial trisomy 9p syndrome with 3-ketothiolase deficeiency in a 4-years-old female. The karyotype of the patient was confirmed as 46,XY, add(9)(p23) mat. In the urine organic acid test, 3-ketothiolase deficiency was reported.
Acetyl-CoA C-Acyltransferase* ; Congenital Abnormalities ; Dermatoglyphics ; Female ; Humans ; Intellectual Disability ; Isoleucine ; Karyotype ; Metabolism ; Microcephaly ; Trisomy*

The effect of four sub-lethal concentrations (400, 800, 1,200 and 1,600 microg/ml) of three amino acids such as isoluecine, aspartic acid and phenylalanine on vegetative growth and sexual and asexual reproduction of Achlya racemosa, A. proliferoides and Saprolegnia furcata was investigated. The density of vegetative growth and diameters of vegetative colonies of species of the Oomycetes fungi decreased with rising the concentration of the applied amino acid. Vegetative hyphae of treated fungi almost appeared branched in case of S. furcata, thick in case of A. racemosa and distorted in case of A. proliferoides as compared with control. The different treatments with amino acids depressed both sporangial formation and discharge, which were dependent on the tested species of zoosporic fungi, the amino acid and its dosage. Phenylalanine was the most effective amino acid in inhibiting sporulation and S. furcata was the most sensitive fungal species. Aspartic acid and isoleucine stimulated germination of discharged spores through the formation of germlings. Gemmae formation by the three fungi was reduced at the low concentrations of amino acids and nearly missed at high concentrations. Sex organs (oogonia and antheridia) were affected partly; rudiment oogonia were observed at low concentrations (400 and 800 microg/ml) and disappeared at higher concentrations, whereas antheridial branch formation was stimulated as the fungi were treated with isoleucine and to some extent phenylalanine.
Achlya* ; Amino Acids* ; Aspartic Acid ; Fungi ; Germination ; Hyphae ; Isoleucine ; Oogonia ; Oomycetes ; Phenylalanine ; Reproduction, Asexual ; Saprolegnia* ; Spores

BACKGROUND AND OBJECTIVES: A biallelic A/G polymorphism in the Monocyte chemotactic protein (MCP) -1 at position -2518 has been found to affect the level of MCP-1 expression. To investigate if these polymorphisms in chemokine ligand and receptor genes are relevant for the development of allergic rhinitis, we investigated polymorphisms of MCP-1 and CC chemokine receptor 2 (CCR2) known as the receptor of MCP-1. MATERIALS AND METHOD: Blood samples for genetic analysis were obtained from 198 individuals with allergic rhinitis and from 278 healthy subjects without atopic diseases. Polymerase chain reaction-based assay for MCP-1 -2518 A/G (A/G polymorphism in the MCP-1 at position -2518) and CCR2 V64I polymorphisms (replacement of valine by isoleucine in CCR2 64) was used for genotyping. RESULTS: There were no differences in the frequencies of the genotypes in the controls and patients (p>0.05). The frequencies of the MCP-1 G and CCR2 A alleles were not statistically different between controls and allergic rhinitis patients (p>0.05). The odds ratios (95% confidence interval) of MCP-1 G/G and CCR2 A/A genotypes for allergic rhinitis were not statistically significant, whereas, alleles frequencies of MCP-1 -2518G and CCR2 A of controls were various according to the ethnic background. CONCLUSION: Our result suggests MCP-1 -2518 A/G and CCR2 V64I polymorphisms are not part of the factors contributing to genetical susceptibility in the development of allergic rhinitis in Koreans.
Alleles ; Genetic Predisposition to Disease* ; Genotype ; Humans ; Isoleucine ; Korea ; Monocytes ; Odds Ratio ; Receptors, CCR2 ; Rhinitis* ; Valine

Objective: Differential flora and differential metabolites shared by the intestinal and respiratory tracts of rats were screened to analyze the possible role of changes in intestinal flora and metabolites in the progression of pneumoconiosis in rats. Methods: In April 2020, 18 SD rats were randomly divided into three groups (control group, coal mine dust group and silica group, 6 in each group) , rats in the coal mine dust group and silica group were perfused with 1 ml of 50 mg/ml coal mine well dust suspension and silica suspension by nontracheal exposure, respectively. While rats in the control group were perfused with an equal dose of sterilized normal saline. Twenty four weeks after dust staining, rat feces, throat swabs, and lung lavages were collected. 16SrDNA gene sequencing and UHPLC-QTOF-MS untargeted metabolomics were used to analyze the flora and metabolites in feces, throat swabs and lung lavage fluid of rats in each group, to screen for shared differential flora and shared differential metabolites in intestinal and respiratory tract, and the correlation analysis between the differential flora and metabolites was performed using Spearman's statistics. Results: Compared with the control group, a total of 9 species shared differential flora between intestinal and respiratory tract were screened at phylum level, and a total of 9 species shared differential genus between intestinal and respiratory tract were screened at genus level in the coal mine dust group, mainly Firmicutes, Actinobacteria, Streptococcus, Lactobacillus, etc. Compared with the control group, a total of 9 shared differential flora were screened at the phylum level, and a total of 5 shared differential genus were screened at the genus level in the silica group, mainly Proteobacteria, Actinobacteria, Allobactera, Mucilaginibacter, etc. Compared with the control group, a total of 7 shared differential metabolites were screened for up-regulation of Stigmatellin, Linalool oxide and Isoleucine-leucine in both intestinal and respiratory tract in the coal mine dust group. Compared with the control group , a total of 19 shared differential metabolites werescreened in the silica group, of which Diethanolamine, 1-Aminocyclopropanecarboxylic acid, Isoleucine-leucine, Sphingosine, Palmitic acid, D-sphinganine, 1, 2-dioleoyl-sn-glycero-3-phosphatidylcholine, and 1-Stearoyl-2-oleoyl-sn-glycerol 3-phosphocholine were up-regulated in both the intestinal and respiratory tract. Conclusion: There is a translocation of intestinal and respiratory flora in pneumoconiosis rats, and rats have an imbalance of lipid metabolism during the progression of pneumoconiosis.
Rats ; Animals ; Isoleucine ; Leucine ; Coal Mining ; Rats, Sprague-Dawley ; Pneumoconiosis ; Dust/analysis* ; Silicon Dioxide ; Coal

OBJECTIVE: To explore the serological characteristics and molecular biological mechanism of an a_el subtype specimen. METHODS: The ABO blood typing was identified by routine blood group serological and absorption/elution methods; PCR-SBT method for ABO genotyping: 7 exons of ABO gene were amplified by PCR, the amplified products were purified, and then sequencing primers were designed and the amplified products were sequenced directly for analysis; 3D molecular model was constructed and the difference of free energy (ΔΔG) was used to predict the GTA mutant stability. RESULTS: A antigen was not detected on erythrocytes through absorption and elution tests, which was not consistent with the serological characteristics of a_el, and the serological typing results were ambiguous. The ABO genotype was ABO*AEL.02/O.01.01, and there were two mutations in exon 7 of the gene, c.467C>T and c.646T>A, which could lead to the replacement of proline with leucine at position 156 (p.Pro156Leu) and phenylalanine with isoleucine at position 216 on the GTA, respectively. The 3D model predicts that the mutations do not introduce new hydrogen bonds to the GTA mutant and do not form a new secondary structure, but can lead to an increase in the ΔΔG value of the GTA mutant, suggesting a decrease in protein stability. CONCLUSION The serological characteristics alone is not reliable to determine the a_el subype; the a_el phenotype may be due to the GTA mutant that reduces enzyme stability.
ABO Blood-Group System/genetics* ; Alleles ; Genotype ; Isoleucine/genetics* ; Leucine/genetics* ; Phenotype ; Phenylalanine/genetics* ; Proline/genetics*

Maple syrup urine disease is an autosomal recessive disease caused by a deficiency of the branched-chain alpa-ketoacid dehydrogenase complex. The disease is often suspected because of the peculiar odor of maple syrup in urine. Maple syrup urine disease is usually confirmed by amino acid analysis and urine organic acid analysis showing marked elevations of leucine, isoleucine, valine, and respective ketoacids in blood and urine. We experienced a case of a newborn patient with maple syrup urine disease, who suffered from poor feeding, irritability, hypotonicity and generalized convulsions. She was promptly treated with peritoneal dialysis and branched-chain amino acid free diet. The patient was controlled successfully and discharged.
Acer* ; Diet* ; Humans ; Infant, Newborn ; Isoleucine ; Leucine ; Maple Syrup Urine Disease* ; Odors ; Oxidoreductases ; Peritoneal Dialysis* ; Seizures ; Valine

Acetyl-CoA C-Acyltransferase ; deficiency ; Amino Acid Metabolism, Inborn Errors ; diagnosis ; enzymology ; metabolism ; Diagnosis, Differential ; Humans ; Infant ; Isoleucine ; metabolism ; Male

The effects of different concentrations of three amino acids as carbon and or nitrogen sources on mycelial dry weights, changes in pH values of synthetic medium, ammonia secretion and extracellular protease activity by three zoosporic fungi, pathogens of fish and shellfish, were studied. As compared with the control, the addition of isoleucine and aspartic acid as nitrogen sources were generally stimulative for mycelial dry weight production whereas phenylalanine was inhibitory irrespective to the tested fungal species. When amino acids served as carbon and nitrogen sources, the mycelial dry weights of the three fungi were increased (mostly non-significantly) relative to untreated control but weights were decreased as the concentrations of the three amino acids raised. The addition of individual amino acids as carbon and nitrogen sources to the medium significantly increased pH values of the medium comparable to the control. The addition of each of the three amino acids as carbon and nitrogen sources to the medium significantly induced ammonia secretion by the three species of zoosporic fungi. Ammonia secretion in synthetic medium amended with amino acids as nitrogen source raised by the three zoosporic fungi relative to untreated control except in case of Achlya racemosa treated with isoleucine. Extracellular protease activity was almost promoted in case of Achlya proliferoides and Saprolegnia furcata cultures treated with isoleucine and aspartic acid individually in presence of glucose and vice versa in case of phenylalanine. However, extracellular protease activity of A. racemosa decreased compared with the control at various concentrations of isoleucine and both phenylalanine and aspartic acid assumed inconsistent effects. Extracellular protease activity of the three zoosporic fungi in the medium devoid of glucose varied depending upon zoosporic fungal species, the tested amino acid and the applied concentrations. The values of protease activity were approximately less two folds than that obtained in presence of glucose.
Achlya ; Amino Acids* ; Ammonia* ; Aspartic Acid ; Carbon ; Fungi ; Glucose* ; Hydrogen-Ion Concentration ; Isoleucine ; Nitrogen ; Oomycetes* ; Phenylalanine ; Saprolegnia ; Shellfish ; Weights and Measures

Maple syrup urine disease(MSUD) is an autosomal recessive disorder involving the metabolism of the branched-chain amino acids(BCAA) such as leucine, isoleucine and valine. The disorder is due to a defect in branched-chain alpha-ketoacid dehydrogenase(BCKAD) and the classic form causes rapid progressive and overwhelming illness beginning in the first weeks of life, present with poor feeding, lethargy, change in muscle tone, acidosis, seizures and coma. The goal of therapy in acutely ill patients with MSUD is an immediate reduction in the plasma levels of the BCAAs and branched-chain ketoacids. In this report, we describe an infant with MSUD who was treated by dietary therapy alone. During the therapy, acrodermatitis enteropathica-like syndrome developed with low plasma isoleucine concentration while she was receiving a formula deficient in BCAAs.
Acer* ; Acidosis ; Acrodermatitis* ; Amino Acids, Branched-Chain ; Coma ; Diet Therapy* ; Diet* ; Humans ; Infant ; Isoleucine ; Lethargy ; Leucine ; Maple Syrup Urine Disease* ; Metabolism ; Plasma ; Seizures ; Valine