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Biomedical subjects

R Minami

Publications and source records attributed to R Minami.

At least 145 records · Page 8Linked to original sources
PubMed1979

Dubin-Johnson syndrome in a neonate.

We described the clinical and biochemical findings in a 32 day-old boy with the Dubin-Johnson syndrome. Only two other patients diagnosed as having the Dubin-Johnson syndrome during neonatal period have been reported in the literature. The ratio of urinary coproporphyrin isomer I of our patient was 97% and that of his parents were carrier level, confirming that increased urinary excretion of coproporphyrin isomer I is of diagnostic value in neonates with the Dubin-Johnson syndrome.

Coproporphyrins↗
PubMed1979

Age-dependent variations of lysosomal enzymes in human liver.

The specific activities, the Km values, and the elution patterns on DEAE 52 and Sephadex G-150 columns of six lysosomal enzymes in human liver during development were studied. The levels of total beta-D-glucuronidase and N-acetyl-beta-D-glucosaminidase activities in childhood liver were higher than those in fetal liver. The Km values of beta-D-glucuronidase and beta-D-galactosidase in fetal liver were about ten times higher than those in childhood liver. The elution patterns on DEAE 52 of beta-D-glucuronidase and on Sephadex G-150 of alpha-D- and beta-D-galactosidases changed with aging. It is suggested that lysosomal enzymes related to degradation of gangliosides and glycosaminoglycans change during development.

Acetylglucosaminidase↗
PubMed1978

Prenatal diagnosis of GM1-gangliosidosis: biochemical manifestations in fetal tissues.

A prenatal diagnosis of GM1-gangliosidosis was made in a pregnancy at risk, on the basis of a deficiency of beta-galactosidase activity demonstrated in cultured amniotic fluid cells. Biochemical analyses were performed in the aborted fetus. GM1-ganglioside beta-galactosidase activity was reduced to 1% of the control value in both the brain and liver of the affected fetus. Lamellar bodies suggestive of membranous cytoplasmic bodies were found in cells of basal ganglions, while the accumulation of GM1-ganglioside in the brain was not remarkable.

Amniotic Fluid↗
PubMed1978

Lysosomal acid hydrolases in established lymphoblastoid cell lines, transformed by Epstein-Barr virus, from patients with genetic lysosomal storage diseases.

Lysosomal acid hydrolases were determined in established lymphoblastoid cell lines, transformed in vitro by Epstein-Barr virus (EBV) from lymphocyte-rich cell populations isolated from the peripheral blood of patients with genetic lysosomal storage diseases--Hurler syndrome, Scheie syndrome, GM1-gangliosidosis type 1 and type 2, Tay-Sachs disease, and I-cell disease--and from obligate heterozygotes for these diseases. The respective enzyme activity was undectectable in lymphoblastoid cells from the patients, but not from controls. Obligate heterozygotes could not always be distinguished from controls in lymphoblastoid cells as well as in leukocytes. These results suggest that established lymphoblastoid cell lines are useful material for the enzymatic study of genetic lysosomal storage diseases.

Cell Line↗
PubMed1978

Chronic Niemann-Pick disease with sphingomyelinase deficiency in two brothers with mental retardation.

Clinical, biochemical, and electron microscopic studies are presented in two brothers with Niemann-Pick disease. The clinical features include hepatosplenomegaly and mental retardation without any other neurological signs. Roentgenograms of the chest showed bilateral diffuse reticular infiltration. The amounts of sphingomyelin and cholesterol in liver were increased, and sphingomyelinase activities in both liver and skin fibroblasts were markedly reduced in Case 1. Numerous foam cells and myelin figures were observed in the liver, kidneys, bone marrow, and lymph nodes on electron microscopical examination. These cases were regarded as a variant of Niemann-Pick disease from our investigations as they have mental retardation as an exceptional symptom when they are diagnosed as type B.

Adolescent↗
PubMed1977

alpha-L-Iduronidase activity in established lymphoblastoid cells from patients with Hurler and Scheie syndromes transformed by Epstein-Barr virus.

alpha-L-Iduronidase activity was determined in established lymphoblastoid cells, which were transformed in vitro by Epstein-Barr virus, of lymphocytes-rich cell populations isolated from peripheral blood of patients with Hurler and Scheie syndromes. alpha-L-Iduronidase activities in established lymphoblastoid cells from patients were undetectable, while activities of control subjects were clearly detected. These results suggest that established lymphoblastoid cells are useful for the enzymatic study of genetic mucopolysaccharidoses.

Adolescent↗
PubMed1976

Atypical Hurler syndrome without alpha-L-iduronidase deficiency.

Three atypical patients with clinical and laboratory findings of Hurler syndrome, but without alpha-L-iduronidase deficiency, are described. Clinical features included characteristic facies, mental retardation, corneal clouding, dysostosis multiplex, restriction of joint mobility, and hepatosplenomegaly. Excessive amounts of chondroitin sulfate B and heparitin sulfate were excreted in the urine. alpha-L-Iduronidase activities in leucocytes and liver tissues were within the normal range or somewhat elevated.

Adolescent↗
PubMed1975

Cystinuric heterozygotes and cystine-loading.

During routine screening procedures for amino acid disorders by thin layer chromatography, performed in a children's psychiatric hospital, we detected 6 children who excreted excessive amounts of dibasic amino acids. The probands, their siblings and parents and 11 controls (29 subjects in all) were loaded with cystine. On the basis of the urinary excretion after the loading we distinguished normal subjects from cystinuric heterozygotes, which we further subdivided in heterozygotes type II and III by the corresponding serum response.

Cystine↗
PubMed1975

Statistical evaluation of a new method to detect carriers of phenylketonuria.

40 positive heterozygotes and 43 controls were loaded with 200 mg phenylalanine per kilogram body weight. The aromatic acids excreted 2 hrs after the loading were quantified by gaschromatography. The amounts of mandelic acid (MA), 2-hydroxyphenylacetic acid (2HOPAA) and phenylpyruvic acid (PPA) were used for a discriminatory analysis. The MA concentration alone gives a better discrimination than the statistical analysis.

Evaluation Studies as Topic↗
PubMed1975

Phenylketonuria in a patient with cystinuria.

During routine screening procedures for amino-acid disorders by thin-layer chromatography, a 16-year-old boy was found to have phenylketonuria and cystinuria. A phenylalanine and a cystine loading were carried out. The patient was found to be homozygous for phenylketonuria and heterozygous for cystinuria type II. His father was heterozygous for phenylketonuria and cystinuria, while his mother proved to be heterozygous only for phenylketonuria.

Adolescent↗
PubMed1975

Hypersarcosinemia with craniostenosis-syndactylism syndrome.

Hypersarcosinemia with craniostenosis-syndactylism syndrome. After a sarcosine loading the sarcosine-glycine ratios seem to be a more reliable criterion to distinguish different genotypes than the sarcosine tolerance curves.

Amino Acid Metabolism, Inborn Errors↗