• Journal of Veterinary Clinics
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• v.23 no.1
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• pp.72-76
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• 2006

A 1-year-old, female English cocker spaniel (ECS) dog was presented with 3-month history of vomiting and retaking of the vomitus, and chronic weight loss. The client had noticed mild abdominal distension 10 days before. The dog was diagnosed as chronic hepatitis with hepatic cirrhosis based on complete blood count (CBC), serum chemistry profiles, radiography, ascites assessment, bile acid evaluation, and liver biopsy through exploratory laparotomy and necropsy. CBC and serum chemistry profiles revealed mild anemia, slightly elevated hepatic enzymes (ALT and AST), increased creatinine kinase (CK), hyperammonemia, and hypoproteinemia with hypoalbuminemia. Ascites was transudate according to analysis of components. Bile acid assessment (fasting; $174.4{\mu}mol/L$ and postprandial; $198.4{\mu}mol/L$) showed strongly suspected hepatic insufficiency. On radiological findings, ascites was evident. Atrophied liver (especially left side lobes) and distended mesenteric vasculatures were observed by exploratory laparotomy. Histopathological examination of marginal lesion of left lateral lobe of liver by biopsy revealed the necrosis of hepatic cells, dilation of sinusoids, infiltration of neutrophils in sinusoids, and vacuolation of hepatic cytoplasm. The patient had been managed with careful low protein diet and specific supportive therapy (ursodeoxycholic acid, prednisolone, vitamine E, and interferon). Vomiting and ascites disappeared with medical management. The dog was monitored periodically by CBC, serum chemistry and radiographic examination. The dog survived more 18 months with medical therapy. After spontaneous death, necropsy and histopathologic examination were performed.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.53-63
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• 2007

Purpose : Tandem mass spectrometry (MS/MS) is effective screening test for inherited metabolic diseases. In this study, we estimate potential costs and benefits of using tandem mass spectrometry (MS/MS) to screen new borns for inherited metabolic diseases (phenylketonuria, BH4 deficiency, citrullinemia, maple syrup urine disease, propionic aciduria, isovaleric aciduria, glutaric aciduria type 1, LCHAD deficiency) in Korea. Methods : From April 2001 to March 2004, 79,179 new borns were screened for amino acid disorders, organic acid disorders, and fatty acid oxidative disorders. Twenty-eight new borns were diagnosed with one of the metabolic disorder and the collective estimated prevalence amounted to 1 in 2,800 with a sensitivity of 97.67%, a specificity of 99.28%, a recall rate of 0.05%, and a positive preditive value of 6.38%. We calculated and compared the total costs in case when neonatal screening on pheny lketonuria, BH4 deficiency, citrullinemia, maple syrup urine disease, propionic aciduria, isovaleric aciduria, glutaric aciduria type 1, LCHAD deficiency is implemented, and when not. Results : If the neonatal screening on pheny lketonuria, BH4 deficiency, citrullinemia, maple syrup urine disease, propionic aciduria, isovaleric aciduria, glutaric aciduria type 1, LCHAD deficiency is implemented, total benefits far exceed costs at a ratio of 1.40:1. Conclusion : Although, this study only concerns the monetary aspects of the neonatal screening, tandem mass spcetrometry for neonatal screening is cost-effective compared with not screening. The study appears to support the introduction of tandem mass spectrometry into a Korea neonatal screening programme for inherited metabolic diseases.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.21 no.1
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• pp.15-21
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• 2021

Purpose: Urea cycle disorder (UCD) is an inherited inborn error of metabolism, acting on each step of urea cycle that cause various phenotypes. The purpose of the study was to investigate the long-term clinical consequences in different groups of UCD to characterize it. Methods: Twenty-two patients with UCD genetically confirmed were enrolled at Pusan National University Children's hospital and reviewed clinical features, biochemical and genetic features retrospectively. Results: UCD diagnosed in the present study included ornithine transcarbamylase deficiency (OTCD) (n=10, 45.5%), argininosuccinate synthase 1 deficiency (ASSD) (n=6, 27.3%), carbamoyl-phosphate synthetase 1 deficiency (CPS1D) (n=3, 13.6%), hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) (n=2, 9.1%), and arginase-1 deficiency (ARG1D) (n=1, 4.5%). The age at the diagnosis was 32.7±66.2 months old (range 0.1 to 228.0 months). Eight (36.4%) patients with UCD displayed short stature. Neurologic sequelae were observed in eleven (50%) patients with UCD. Molecular analysis identified 37 different mutation types (14 missense, 6 nonsense, 6 deletion, 6 splicing, 3 delins, 1 insertion, and 1 duplication) including 14 novel variants. Progressive growth impairment and poor neurological outcomes were associated with plasma isoleucine and leucine concentrations, respectively. Conclusion: Although combinations of treatments such as nutritional restriction of proteins and use of alternative pathways for discarding excessive nitrogen are extensively employed, the prognosis of UCD remains unsatisfactory. Prospective clinical trials are necessary to evaluate whether supplementation with BCAAs might improve growth or neurological outcomes and decrease metabolic crisis episodes in patients with UCD.