Long-term effects of bone marrow transplantation for inborn errors of metabolism: a study of four patients with lysosomal storage diseases.

Long-term effects of bone marrow transplantation (BMT) were evaluated in patients with I-cell disease, metachromatic leukodystrophy (MLD), Maroteaux-Lamy syndrome or Hunter syndrome (mild form). Donors were human leukocyte antigen (HLA)-matched siblings, and the follow-up periods were 24-71 months after BMT. The enzyme activities were increased in leukocytes, plasma or liver tissues compared with pre-BMT levels.

An acute form of tyrosinemia type I with multiple intrahepatic mass lesions.

The acute form of tyrosinemia type I usually causes severe hepatocellular dysfunction. We report a 4-month-old infant with hepatosplenomegaly, ascites, and multiple intrahepatic mass lesions mimicking hepatoma. A marked increase of serum alpha-fetoprotein (97.

Improvement of tear lysosomal enzyme levels after treatment with bone marrow transplantation in a patient with I-cell disease.

We examined the lysosomal enzyme levels in tear fluids from a patient with I-cell disease after treatment by bone marrow transplantation. Acid phosphatase, beta-D-glucuronidase, N-acetyl-beta-D-glucosaminidase, alpha-L-fucosidase and alpha-D-mannosidase activities were reduced to normal or nearly normal levels after the treatment. We believe that the measurement of tear enzyme levels in I-cell disease is useful for knowing the efficacy of the bone marrow transplantation.

Characterization of new viridomycins and requirements for production in cultures of Streptomyces griseus.

Cultures of Streptomyces griseus grown under phosphate-limiting conditions produced a complex of green products. Three of these were separated from the mixture and characterized. One was identified as viridomycin A, the ferrous chelate of 4-hydroxy-3-nitrosobenzaldehyde; the second (actinoviridin A) was the corresponding carboxylic acid chelate and the third (viridomycin E) was a hybrid chelate containing both the aldehyde and acid ligands.

Partial ornithine transcarbamylase deficiency in females: diagnosis by an immunohistochemical method.

Females heterozygous for the X-linked urea cycle disorder, ornithine transcarbamylase (OTC) deficiency have a significant risk of developing hyperammonaemia. Diagnosis of this genetic defect in a proband is the essential starting point for family studies. By an immunohistochemical analysis of the liver specimens fixed in 10% formalin, we confirmed heterozygous status for OTC deficiency in two female patients, a 15-year-old girl and a 2-year-old girl, who died of hyperammonaemia.

Cytostatic activity of naturally isolated isomers of secalonic acids and their chemically rearranged dimers.

Six different secalonic acids were tested for cytostatic activity against cultured mouse leukaemia L1210 cells. Secalonic acids B and E showed rather weak activity but the other four isomers showed quite strong activity, especially secalonic acids A and D which were slightly more active than adriamycin. The chemically rearranged 2,4'-dimer of secalonic acid A showed almost the same activity as the naturally isolated 2,2'-dimer, but the activity of the 4,4'-dimer was much stronger than that of both the 2,2'-dimer and adriamycin.

Biochemical improvement after treatment by bone marrow transplantation in I-cell disease.

The first case of successful bone marrow transplantation (BMT) in a patient with I-cell disease is reported. A 8-month-old girl with I-cell disease (N-acetylglucosaminylphosphotransferase deficiency) has had successful reconstitution with bone marrow from her HLA-MLC-matched brother who has heterozygous level of the transferase activity. The following biochemical and clinical improvements have occurred: the transferase in peripheral lymphocytes increased to donor's level, and lymphocytic alpha-neuraminidase, beta-galactosidase and alpha-mannosidase increased to normal levels.

New metabolites of Fusarium martii related to dihydrofusarubin.

Six strains of Fusarium martii produced fusarubin and dihydrofusarubins A and B. Further examination of strains, T-77 and T-127, showed that four additional metabolites were produced. By 1H and 13C NMR spectral analyses, these additional metabolites have been identified as 3-O-methyl and 3-O-ethyl ethers of fusarubin and dihydrofusarubin A.

Central and peripheral nervous system pathology of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.

An autopsy case of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency is presented. A 15-year-old boy had mental retardation, epilepsy, and peripheral neuropathy. A sural nerve biopsy revealed a decreased number of myelinated fibers, abnormally thick myelinated fiber groups, and numerous thinner unmyelinated fibers.

Association of the positive inotropic action of ouabain with a second species of digitalis receptors.

Studies were conducted to determine whether Na-K ATPase or a second species of digitalis receptors in canine cardiac sarcolemma membrane preparations is associated with the positive inotropic action of nontoxic concentrations of ouabain. [3H]ouabain association and dissociation experiments using highly enriched sarcolemma preparations from canine ventricle indicate the presence of two species of ouabain binding receptors. Ouabain binding to Na-K ATPase of the sarcolemma preparation requires supporting ligands and is characterized by fast association and very slow dissociation in vitro.

Postheparin plasma lipoprotein lipase activity in heterozygotes of familial lipoprotein lipase deficiency.

Serum lipoprotein pattern, apoproteins and two postheparin triglyceride lipases were analyzed in a patient with familial lipoprotein lipase (LPL) deficiency and her family. Serum of the patient showed extreme hyperchylomicronemia and her postheparin plasma LPL activity was distinctly decreased. None of heterozygotes had any type of hyperlipoproteinemia.

Structure and syntheses of texazone. 2-(N-methylamino)-3H-phenoxazin-3-one-8-carboxylic acid, an actinomycete metabolite.

Cultures of actinomycete strain WRAT-210 produced a dark red crystalline metabolite which was named texazone. Spectroscopic evidence suggested that the structure of texazone is 2-(N-methylamino)-3H-phenoxazin-3-one-8-carboxylic acid. The structure was confirmed by chemical synthesis through oxidative dimerization of ethyl 3-amino-4-hydroxybenzoate with 2-(N-methylamino)phenol and subsequent hydrolysis of the resultant phenoxazinone ester.

Biosynthetic relationships among the secalonic acids. Isolation of emodin, endocrocin and secalonic acids from Pyrenochaeta terrestris and Aspergillus aculeatus.

Cynodontin, emodin, endocrocin and secalonic acids A, E and G have been isolated from five strains of Pyrenochaeta terrestis. Aspergillus aculeatus produces emodin, endocrocin and secalonic acids B, D and F. No cynodontin was detected.

3-Hydroxyterphenyllin, a new metabolite of Aspergillus candidus. Structure elucidation by H and C nuclear magnetic resonance spectroscopy.

A new compound isolated from cultures of Aspergillus candidus Link is shown to be 3-hydroxyterphenyllin. The structure was assigned by comparing the 1H and 13C nmr spectra of the metabolite and its acetate derivative with those of terphenyllin and terphenyllin triacetate.