• Construction Engineering and Management
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• v.25 no.3
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• pp.48-49
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• 2024

• Clinical and Experimental Pediatrics
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• v.51 no.9
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• pp.964-970
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• 2008

Purpose : Methylmalonic aciduria (MMA) and propionic aciduria (PA) are inborn errors in the catabolism of branched-chain amino acids. The study was undertaken to investigate the genotypes and clinical features of Korean patients with MMA and PA. Methods : This study examined 12 patients with MMA and eight with PA. We analyzed various clinical features, laboratory findings, treatments, and neuro-developmental outcomes. Diagnoses were based on the presence of characteristic compounds detected by amino acid analysis in serum and organic acid analysis in urine. Mutation analysis was performed in the genes of MUT, MMAA, MMAB, and MMACHC for MMA and PCCA and PCCB for PA. Results : Among the 20 patients, six patients were diagnosed before one month of age and nine patients were diagnosed after the newborn period. Five patients were diagnosed via a neonatal screening test. Patients with early-onset forms had more severe illness at presentation and generally poor outcomes. A favorable outcome was obtained in 55% patients; most of them were of a late-onset type or diagnosed by neonatal mass screening test without symptoms. Genotypes were confirmed in all patients with MMA. We detected 11 different mutations by MUT gene analysis in 10 patients, and three different mutations in MMACHC genes in two patients. PCCA and PCCB gene mutations were identified in 14 of the 16 alleles, in eight patients with PA. Conclusion : Organic aciduria is a fatal disease; however, better outcomes are expected whenever early diagnosis and prompt management are made possible. Mutation analysis is useful for confirming diagnoses and planning management strategies.

• Journal of the Korea Society for Simulation
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• v.5 no.2
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• pp.1-12
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• 1996

Utilizing the simulation approaches, the dynamic production scheduling system FOLS(Flexible flowshop On-Line Simulation) is developed under the flexible flowshop environment. When an interruption such as machine failure/recovery is occurred at the shop floor, the FOLS system performs evaluations for job selection rule oriented alternatives, and generates a dynamic production schedule based on the collected current shop floor data. For the case study, the FOLS system is applied to the printed circuit card assembly(PCCA) line and simulation results are reported.

• Asian-Australasian Journal of Animal Sciences
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• v.21 no.11
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• pp.1576-1584
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• 2008

In this study, canonical correlation analysis (CCA) was applied to estimate the relationship between three different sexual maturity traits (X set: days to first egg (DFE), weight of the first egg (WFE), body weight at first egg (BWFE)) and level of nutrient intake (Y set: energy (EI) and protein intake (PI)) or the egg production traits at two different periods (Z set: number of egg (NE1 and NET) and weight of egg (WE1 and WET) from 22 to 25 (Wfirst) and 22 to 33 wk of age (Wall), respectively), which were measured from 64 egg-type pullets (Isa Brown) manipulated for time of access to energy and protein sources to onset of egg production. Partial CCA (PCCA) was used to eliminate the contribution of differences in the levels of nutrient intake to canonical variables for X and Z sets at the first production period. Estimated canonical correlation coefficients between X set and Y set (0.429, p = 0.042), X set and Z set (0.390, p = 0.007 for Wfirst) and within Z set (between Wfirst and Wall; 0.780, p<0.001), and partial canonical correlation coefficient between X set and Z set (0.415, p = 0.009) were significant. Canonical weights and loadings from CCA indicated that the BWFE had the largest contribution compared to the DFE and WFE to variation of egg number produced at two different periods. The results from PCCA indicated that the contribution of PI and EI to the degree of the correlation between canonical variables for X and Z sets were unfavourable. In conclusion, the effect of body weight at sexual maturity upon the availability of nutrients can have a higher contribution to variation of egg production in pullets if the contribution of differences in nutrient intakes to onset of egg production were eliminated.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.47-51
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• 2016

Propionic acidemia (PA) is an autosomal recessively inherited disorder of the organic acid metabolism. It is caused by a deficiency of propionyl-CoA carboxylase (PCC). PCC is a heteropolymeric enzyme composed of ${\alpha}$- and ${\beta}$-subunits. The clinical symptoms of PA are heterogeneous and present vomiting, dehydration, hypotonia, and lethargy, and it can result in death. The typical presentations of neonatal onset PA are life-threatening metabolic acidosis and hyperammonemia. Here, we described a case of neonatal onset PA with mild clinical presentations. She was born to a healthy mother without complications. No significant illness was observed until nine days after birth. She started exhibiting poor oral feeding, vomiting, lethargy, and hypotonia at ten days old. Her laboratory results showed mild hyperammonemia and acidosis. The initial diagnosis was neonatal sepsis and she was treated with antibiotics. However, her clinical symptoms didn't improve. So we considered a metabolic disease. She was given nothing by mouth and intravenous hydration and nutrition support was performed. Propionylglycine and 3-hydroxypropionic acid were showed high concentrations in urine by gas chromatograph mass spectrometry (GC-MS). C3 level of acylcarnitine analysis elevated 10.4 uM/L (range, 0.200-5.00) in plasma. We took gene analysis for PA to be based on the symptoms and laboratory results. We detected PCCB gene mutation and diagnosed PA. She survived without severe neurologic defects and complications and was hospitalized only three times with upper respiratory tract infections for 7 years. We report a case of a ten days old neonate with PA presenting without severe metabolic acidosis and hyperammonemia who was effectively treated with early aggressive care and conventional methods.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.21 no.1
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• pp.22-27
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• 2021

Propionic acidemia (PA) is an inherited autosomal recessive disorder, due to the deficiency of propionyl-CoA carboxylase (PCC). PCC is the enzyme which catalyzes the conversion of propionyl-CoA to D-methylmalonyl-CoA, and it is critical for the metabolism of amino acids, odd-chain fatty acids, and side chains of cholesterol. The clinical manifestations present mostly at the neonatal period with life-threatening metabolic acidosis and hyperammonemia. Here, we described a case of a 16-year-old Korean boy with late-onset PA who presented with embolic cerebral infarction due to dilated cardiomyopathy (DCMP) with left ventricular noncompaction. And he has family history of sudden cardiac death, so we performed metabolic screening and genetic tests. Elevated levels of 3-hydroxypropionic acid, methylcitric acid and propionylglycerine were detected in urine. Plasma acylcarnitine profile showed elevated propionylcarnitine (C3). Diagnosis of PA was confirmed by genetic analysis, which revealed compound heterozygous mutations, c.[1151T>G] (p.[Phe384Cys]) and c.[1228C>T] (p.[Arg410Trp]) in PCCB gene. His heart function is in improving state and the results of biochemical analysis are stable with heart failure medication and metabolic managements. We present a case of patient without episodes of metabolic decompensation who manifests DCMP as the first symptom of PA.