Isolation and preliminary characterization of proteoglycan aggregates from cultured dermal fibroblasts.

A1 proteoglycan fractions were prepared by isopycnic cesium chloride density gradient centrifugation from early passage cultured fibroblasts derived from the skin of human infants. In five different fibroblast strains, A1 preparations from the medium and the cells, respectively, contained 36-63% and 59-79% of the sulfated proteoglycans applied to the gradients. A subpopulation of A1 proteoglycans was excluded from Sepharose CL-2B columns under associative conditions (0.

Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion.

Children with inborn errors of urea synthesis accumulate ammonium and other nitrogenous precursors of urea, leading to episodic coma and a high mortality rate. We used alternative pathways for the excretion of waste nitrogen as substitutes for the defective ureagenic pathways in 26 infants. These pathways involve synthesis and excretion of hippurate after sodium benzoate administration, and of citrulline and argininosuccinate after arginine supplementation.

Prenatal diagnosis of Maroteaux-Lamy syndrome.

Maroteaux-Lamy syndrome exhibits deficient activity of the enzyme arylsulfatase-B in cultured skin fibroblasts. Prenatal diagnosis was successfully attempted in two pregnancies of a consanguineous Chaldean couple whose first child is affected with Maroteaux-Lamy syndrome. In both instances, deficient arylsulfatase-B activity was observed in amniotic fluid cell cultures, and the diagnosis was confirmed by 35S-sulfate studies and postmortem enzymology and electron microscopy.

Prenatal identification of paternity. HLA typing helpful after rape.

The HLA antigens system is extremely polymorphic, and HLA typing is now widely used for both the exclusion and the positive assignment of paternity. We have also used HLA typing for identification of paternity of fetal cells in a pregnancy detected a few weeks after the rape of a woman. The HLA typing indicated that the father of the fetus was the woman's husband, with a probability of 25:1 (96%), before the time the rapist could also be tested.

Multiangle light scattering flow photometry of cultured human fibroblasts: comparison of normal cells with a mutant line containing cytoplasmic inclusions.

Multi-angle light scattering flow photometry was used to study the light scattering properties of normal cultured fibroblasts and a mutant fibroblast line containing cytoplasmic lysosomal inclusions. The effect of glutaraldehyde fixation on the light scattering properties of the cells was also examined and correlated with their ultrastructure. Normal fibroblasts showed uniform organelle distribution with few vacuoles or dense bodies in the cytoplasm while the mutant line showed abnormal cytoplasmic inclusions of varying morphology, density and lucency.

The influence of ammonia on purine and pyrimidine nucleotide biosynthesis in rat liver and brain in vitro.

1. The effect of ammonia on purine and pyrimidine nucleotide biosynthesis was studied in rat liver and brain in vitro. The incorporation of NaH(14)CO(3) into acid-soluble uridine nucleotide (UMP) in liver homogenates and minces was increased 2.

An autosomal dominant midline cleft syndrome resembling familial holoprosencephaly.

We have detected a previously unrecognized autosomal dominant syndrome characterized by: mental retardation, microcephaly; craniofacial anomalies including cleft lip and anterior cleft palate, hypotelorism and antimongoloid slant; skeletal anomalies, notably of the foot and spine; and chronic constipation. Despite similarities to familial holoprosencephaly, this disorder appears to be a distinct entity. Incomplete penetrance and variable expressivity accompany transmission of the abnormal allele through four generations of a large kindred.

The effects of N-hexyl-O-glucosyl sphingosine on normal cultured human fibroblasts: a chemical model for Gaucher's disease.

Normal human skin fibroblasts were grown in the presence of N-hexyl-O-glucosyl sphingosine (HGS), an inhibitor of aryl glucosidase and glucocerebrosidase. Tests of the cells with aryl glycosides showed that beta-glucosidase activity in the cells was drastically reduced while other enzyme activities (alpha-glucosidase, beta-galactosidase, and N-acetyl-beta-hexosaminidase) were normal or elevated. Exposure of cells to HGS for 28 days resulted in increased values for cell weight per plate, glucocerebroside concentration, and galactosyl-galactosylglucosyl ceramide concentration.

Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity.

An infant is described who died at 6 days of age with hyperammonemia and argininosuccinic acid in the urine. Argininosuccinic acid lyase (AL) was absent in liver, decreased in red blood cells, but normal in brain and kidney. The instability of AL in frozen stored tissues accounts for previous reports of deficient AL activity in the brain and kidney of neonates with this disease.