Biomedical subjects
V E Shih
Publications and source records attributed to V E Shih.
Transient tyrosinemia in full-term infants.
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Improved paper-chromatographic method for imino acids. Incorporation of isatin, a color reagent, into developing solvents.
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N-acetylcysteine-cysteine disulfide excretion in the urine following N-acetylcysteine administration.
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A simple indirect method of detecting the enzyme defect in histidinemia.
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Argininosuccinic aciduria: clinical, biochemical, anatomical and neuropathological observations.
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D-methioninuria due to DL-methionine ingestion. An artefact detected by a mass screening program for errors of amino acid metabolism.
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Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation.
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Hypermethioninemia with other hyperaminoacidemias. Studies in infants on high-protein diets.
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Rapid short-column chromatography of amino acids. A method for blood and urine specimens in the diagnosis and treatment of metabolic disease.
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Homocystinuria: a report in two siblings.
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Prenatal diagnosis of non-ketotic hyperglycinemia.
We describe successful prenatal diagnosis in four pregnancies at risk for non-ketotic hyperglycinemia, two affected and two unaffected, using the glycine level and the glycine/serine ratio in amniotic fluid obtained at 16 weeks gestational age. Although this method of prenatal diagnosis for non-ketotic hyperglycinemia has been effective in our hands the narrow differences between affected and unaffected pregnancies indicate the need for caution concerning its reliability.
Free amino acids in extracts of cultured skin fibroblasts from patients with various amino acid metabolic disorders.
In the search for a simple screening test for prenatal diagnosis of amino acid metabolic disorders, we compared the free amino acid contents in the extract of cultured skin fibroblasts from normal individuals with that from patients with 10 metabolic disorders: maple-syrup urine disease; homocystinuria due to cystathionine synthase deficiency; homocystinuria due to N5, 10-methylene-tetrahydrofolate reductase deficiency; citrullinemia; argininosuccinic acidemia: propionic acidemia; hyperprolinemia Type II; non-ketotic hyperglycinemia; hydroxyprolinemia; and hyperonithinemia. An accumulation of abnormal metabolites was not found in any of the disorders except argininosuccinic aciduria. Argininosuccinic acid anhydrides were detected in cell extracts from all four patients only after the extract was boiled at acid pH for 2 1/2 h. Thus, it is concluded that the measurement of free amino acids in extracts from cultured fibroblasts is not a useful screening technique in the diagnosis of inborn errors of amino acid metabolism.