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Biomedical subjects

M Doss

Publications and source records attributed to M Doss.

At least 91 records · Page 5Linked to original sources
PubMed1981

[Chronic hepatic porphyria with uroporphyrinogen decarboxylase defect in four generations (author's transl)].

A 54-year-old patient was found to have clinically manifest chronic hepatic porphyria (porphyria cutanea tarda) with characteristic skin findings and pathological porphyrinuria with dominance of uro- and heptacarboxyporphyrin in combination with only slight liver damage. Four generations of his family were investigated and an autosomal dominantly inherited uroporphyrinogen decarboxylase defect was found. In children and grandchildren the urinary porphyrin biochemistry also showed a chronic porphyrin metabolic disorder, in some cases with transition to the initial stages of chronic hepatic porphyria. The patient was treated with metabolic alkalisation using Uralyt-U. Skin changes became normal within 6 months. The chronic hepatic porphyria regressed through varyingly severe latent stages over two years until normal porphyrin in urine was reached.

Carboxy-Lyases↗
PubMed1981

Hereditary prophobilinogen synthase deficiency in human associated with acute hepatic porphyria.

Deficient porphobilinogen-synthase (PBG-S) of a previously reported patient with PBG-S defect porphyria (red cell PBG-S activity approximately 2% of the physiological level) has been characterized in erythrocytes after DEAE cellulose chromatography, ultrafiltration and polyacrylamide gel electrophoresis: Residual specific activity of 2.5%, increase of Km, but identical fractionation, concentration and electrophoretic mobility of the enzyme protein compared to controls. These results provide evidence for a structural mutation of the gene specifying the enzyme PBG-S connected with a homozygous state of this new enzymatic type of hereditary acute porphyria.

Adult↗
PubMed1981

Alcohol-induced decrease in uroporphyrinogen decarboxylase activity in rat liver and spleen.

Chronic alcohol consumption in rats leads to a decrease in uroporphyrinogen decarboxylase activity in liver and spleen, associated with a pathologic porphyrinuria. These findings show the toxic effect of alcohol in the biochemical pathogenesis of chronic hepatic porphyria. The results confirm experimentally the transition of symptomatic coproporphyrinuria to chronic hepatic porphyria as observed in man, and the progression of biochemical phases of chronic hepatic prophyria into the clinical phase, i.e., the development from latent to manifest stages under chronic alcohol ingestion.

Alcoholism↗
PubMed1980

Uroporphyrinogen decarboxylase deficiency in experimental chronic hepatic porphyria.

During hexachlorobenzene feeding of rats the following biochemical signs of a chronic hepatic porphyria developed: porphyrinuria with increase of uro- and hexacarboxyporphyrin, hepatic prophyrin accumulation of uro- and heptacarboxyporphyrin and a diminished activity of uroporphyrinogen decarboxylase in the liver, but nut in the red cells. During the 5.3 days of the intoxication the behaviour of metabolite constellation and enzyme activities was inverse. Hexachlorobenzene porphyria in rats is a pathobiochemical model of chronic hepatic prophyria, which in man becomes clinically manifest as porphyria cutanea tarda.

Animals↗
PubMed1980

[Porphyria variegata].

Report of two patients with porphyria variegata. Several members of the first patient's family had abnormalities of porphyrine metabolism without having manifestations of porphyria. A biochemical screening of family members of PV patients is important because of its prophylactic value. In the second patient's family at least three persons have porphyria-like signs, but not all of them could be seen by us. Diagnosis, pathogenesis and therapy of porphyria variegata are discussed.

Adult↗
PubMed1979

[Diagnosis and differential diagnosis of acute hepatic prophyrias (author's transl)].

Diagnosis of porphyria is a clinical and biochemical procedure. Acute hepatic porphyrias are molecular regulation diseases which are characterized by a relative enzyme deficiency of the ferro-chelatase chain and an induction of hepatic delta-aminoacid synthase. There are indistinct clinical and pathobiochemical transitions between the three acute hepatic types of porphyria: acute intermittent porphyria, hereditary coproporphyria and porphyria variegata. They develop a similar acute clinical syndrome. The differential diagnosis is made possible by a differentiation of porphyrins and porphyrin precursers in the urine and the porphyrines in the stool and by the determination of uroporphyrinogen synthase activity in the erythrocytes.

Acute Disease↗
PubMed1979

New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation.

In two young patients with acute hepatic porphyria syndrome and persisting paralyses, which increased in intensity during intermittent occurring crisis, the activity of erythrocyte porphobilinogen synthase (delta-aminolevulinic acid dehydratase) was found to be considerably diminished, below 1% of the value of normal control persons. In contrast, the activity of uroporphyrinogen synthase was normal. Both patients have been excreting high quantities of delta-aminolevulinic acid and porphyrins in urine for years. Lead intoxication has definitively been excluded. Since the relatives also show lower activities in porphobilinogen synthase, the disease of these two patients is probably a new enzymatic type of inherited acute hepatic porphyria, the excretion profile of which is qualitatively completely different from those of the known acute porphyrias. The discovery of this porphyria confirms the theory of overlapping transition in the biochemical and clinical symptoms and analogies among acute hepatic porphyrias.

Acute Disease↗