Biomedical subjects

A Ohtake

Publications and source records attributed to A Ohtake.

62 records · Page 4Linked to original sources

PubMed1985

Niemann-Pick disease associated with liver disorders.

We report a case of Niemann-Pick disease (NPD) with accumulation of sphingomyelin in reticuloendothelial system (RES), hepatocellular giant cell transformation (GCT), cirrhosis, and multiple hepatocellular adenomata in a 19-month-old girl. GCT, but no NP-cells, were seen at age 3 months by biopsy. Cirrhosis and hepatocellular adenomata were demonstrated in the liver at 19 months of age. Cytoplasmic, probably locally synthesized, globules of alpha-1-antitrypsin (A-1-AT) were accumulated in the hepatocellular adenomata. A-1-AT and alpha-fetoprotein (AFP) were present in the serum.

Fatty Liver↗

PubMed1984

Molecular basis of ornithine transcarbamylase deficiency lacking enzyme protein.

We report an ornithine transcarbamylase(OTC)-deficient male patient who had no detectable immunoreactive materials but did have active mRNA for OTC-related protein. The total absence of OTC activity in the liver of the patient was caused by a complete lack of immunoreactive material, as determined by Ouchterlony double immunodiffusion, single radial immunodiffusion, and sodium dodecylsulphate-polyacrylamide gel electrophoresis of immunoprecipitate and of liver homogenate. However, mRNA coding for the precursor of OTC was clearly detected in autopsy specimens of the patient's liver as well as of controls in a cell-free translation system consisting of rabbit reticulocyte lysates and [35S]methionine. The labelled precursor of OTC synthesized in vitro with mRNA from the patient could be transported into rat liver and kidney mitochondria and processed to form a protein with a molecular weight indistinguishable from mature OTC, suggesting that there was no defect in the protein structure necessary for its transport into mitochondria. These results suggest that the primary defect of the OTC deficiency was located in the structural gene and that the labile OTC-related protein, after being synthesized with its mRNA, was degraded too rapidly to be detected by the method used.

Amino Acid Metabolism, Inborn Errors↗

PubMed1984

A female case of ornithine transcarbamylase deficiency with marked computed tomographic abnormalities of the brain.

The patient, 2 years and 9 months of age, was referred to our hospital with complaints of frequent vomiting, left hemiconvulsion and deep coma. The serum ammonia level was 251 micrograms/dl. Urine had a high orotate level (3,900 mumol/g creatinine). There was 7% residual of ornithine transcarbamylase (OTC) activity in the liver. Activities of other enzymes of the urea cycle were within normal limits. CT scanning on admission showed diffuse low density of both frontal lobes and of the right temporo-parietal lobe, narrowing of the right lateral ventricle and a shift of the mid-line to the left. The diffuse low density area was not enhanced after contrast medium injection. Follow-up CT scanning showed progressive bilateral ventricular dilatation and cerebral and cerebellar atrophy.

Amino Acid Metabolism, Inborn Errors↗

PubMed1983

A case of transient neonatal citrullinemia.

A male infant with transient citrullinemia is described. Initially, he was found to have hypertyrosinemia and hypermethioninemia upon routine neonatal screening for inborn errors of metabolism performed at 4 days of age and was revealed to have citrullinemia upon detailed examination of plasma amino acids. At 30 days of age, the plasma citrulline concentration was 13 mg/dl (normal, less than 0.8). In addition, the citrulline concentrations in the urine and cerebrospinal fluid (CSF) were markedly elevated. The blood ammonia and the CSF ammonia concentrations (300 micrograms/dl and 59 micrograms/dl, respectively) were also increased, but the infant showed no symptoms. Dietary protein intake was restricted to 2 g/kg/day, resulting in normalization of plasma citrulline and blood ammonia concentrations by 2 months of age. At 12 months of age, the infant was given a regular diet, and his physical and mental development was normal. 14C-citrulline incorporation into trichloroacetic acid (TCA)-precipitable material was normal in the fibroblasts. This report describes the first case in the literature of transient neonatal citrullinemia.

Amino Acid Metabolism, Inborn Errors↗

PubMed1983