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Biomedical subjects

D Steinberg

Publications and source records attributed to D Steinberg.

At least 325 records · Page 18Linked to original sources
PubMed1971

The metabolic basis of the Refsum syndrome.

Studies in patients with the Refsum syndrome show that accumulation of phytanic acid stems from a metabolic error in the pathway for its oxidative degradation. The major degradative pathway involves an initial alpha oxidation followed by successive beta oxidation steps. The enzyme defect in patients with phytanic acid storage appears to be at the very first step, alphahydroxylation of phytanic acid. Heterozygous carriers have a partial fibroblasts in cell culture. On diets low in phytanic acid content, plasma phytanic acid levels fall and objective studies in patients suggest therapeutic benefit.

Animals↗
PubMed1971

Heredopathia atactica polyneuritiformis (Refsum's Disease): a second trial of dietary therapy in two patients.

Two sibs with heredopathia atactica polyneuritiformis (Refsum's Disease) each had a relapse after ceasing to follow a special diet. On being placed on a very restricted low phytol, low phytanic acid diet both had marked subjective improvement, and marked objective improvement both in physical findings and in quantitative tests of strength, dexterity, and motor nerve conduction velocities, concomitant with a fall in serum phytanic acid levels. No relapse occurred in 22 months on this diet.

Ataxia↗