Biomedical subjects
Publications and source records attributed to S Shinozuka.
A 53-year-old male presented with a dissecting aneurysm of the extracranial distal internal carotid artery (ICA) treated by aneurysm removal with interposition of a saphenous vein graft. The surgical approach involved sectioning of Riolan's nosegay.
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A 50-day-old boy with severe lactose intolerance is described. In addition to vomiting, failure to thrive, dehydration, metabolic acidosis and amino aciduria, bilateral cataracts were also found. At three months of age, a computerized axial tomography scan and an electroencephalogram were abnormal, and myoclonic spasms began at the age of seven months.
Two patients with phenylketonuria detected by newborn screening for inborn errors of metabolism were treated with low phenylanine formulae. Serum phenylalanine levels were well controlled, but serum glycine levels were elevated until 4 or 5 months of age. This was probable due to the high content of glycine in the formulae. Glycine level returned to be normal in these patients, even though they were kept on the same formula, suggesting, immature metabolism of glycine during this period. No clinical problems were encountered in either patient.
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.
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.
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