Molecular diagnosis of maple syrup urine disease: screening and identification of gene mutations in the branched-chain alpha-ketoacid dehydrogenase multienzyme complex.
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B-Lymphocytes↗
Biomedical subjects
I Akaboshi
Publications and source records attributed to I Akaboshi.
Lysine intolerance in a variant form of citrullinemia.
An oral loading of lysine (100 mg of lysine-HCL/kg was performed in two patients, 18-and 23-yr-old, with a variant form of citrullinemia. Serum citrulline levels were approximately 10 times higher than control level and lysine levels were within the normal range, in contrast to the classical form of the disease in which serum citrulline is approximately 100 times normal levels and hyperlysinemia is usually present. After lysine loading, lysine levels rose sharply and clearance was decreased. Blood ammonia rose approximately 2.5 times. Lysine, citrulline, and arginine were markedly elevated in urine, collected 90--210 min after the lysine loading. Baseline homocitrulline and homoarginine excretion was elevated and increased further after the load.
Adolescent↗
Methylmalonic acidemia.
A patient presenting with severe metabolic acidosis accompanied by hyperglycinemia, hyperuricemia, hypoglycemia and hypertammonemia is described. Metabolic acidosis was found to be due to accumulated methylmalonic acid and did not respond to vitamin B12 administration. The patient showed favorable growth and development when kept on a low isoleucine, methionine, threonine and valine diet. In vitro studies using a lymphoid cell line derived from the patient showed a deficiency of methylmalonyl-CoA carbonyl-mutase.
Acidosis↗
Lysosomal enzyme activities in cultured lymphoid cell lines.
Several lysosomal enzyme activities in cultured lymphoid cell lines were studied during 3 phases of cell culture; logarithmic growth phase, stationary phase and decline phase. Enzyme induction during cell growth was found in N-acetyl-hexosaminidase, beta-galactosidase and alpha-L-fucosidase, but no induction in alpha-D-mannosidase, alpha-glucosidase and beta-glucuronidase. The latter two enzymes were unchanged during all cell culture phases. A drop in alpha-L-fucosidase and alpha-D-mannosidase activity was found during the stationary and decline phases of cell culture.
Cell Division↗