[Unexpected metabolic acidosis in severe lye poisoning (author's transl)]. / Unerwartete metabolische Azidose bei schwerer Lauge-Intoxikation.

A woman 38 years of age suffering from severe peroral lye intoxication, without shock, developed prolonged metabolic acidosis lasting for 8 days despite substitution therapy. Metabolic acidosis was caused by lactic acid. The increased lactic acid production in the marginal regions of the corroded upper digestive tract as well as the impaired lactate removal by the injured liver were most probably responsible for this lactic acidosis.

Unexpected metabolic acidosis in severe lye poisoning.

Prolonged metabolic acidosis developed in a 38-year-old patient suffering from severe peroral liquid lye poisoning without shock syndrome. Metabolic acidosis was caused by lactic acid. The combination of increased lactic acid production in the marginal regions of the necrotic intestinal areas and impaired lactate removal by the liver were most probably responsible for this lactic acidosis.

C-peptide-measurement: a simple method for the improvement of specificity.

Sera containing insulin antibodies and proinsulin give artifactual high readings in C-Peptide measurement. This problem can be circumvented by the removal of antibodies and proinsulin prior to C-Peptide assay. A method is described which enables the removal of antibodies and proinsulin from sera without affecting the C-Peptide determination. Furthermore, this method allows a semiquantitative estimation of proinsulin, provided there is enough cross reactivity of the C-Peptide antibody with proinsulin.

Treatment of delayed puberty by intranasal application of gonadotropin-releasing hormone (GnRH).

Seven male patients between 15(5)/12 and 19(6)/12 years of age with delayed puberty, two of them anosmic, received 200 microgram GnRH nasally (N) six to eight times daily for a period of 3 months, or in one case for 6 months. Changes in basal secretion and responsiveness of the gonadotropins were recorded by serial GnRH tests. Serial measurements of serum testosterone (T) were also done. While serum T, before treatment, was low it prepubertal levels in all patients, basal serum gonadotropins and gonadotropin responsiveness in the GnRH tests were found to be within the adult range in most of the patients. In the two anosmic patients, after 2 to 4 weeks of treatment decreasing gonadotropin responsiveness of GnRH was observed, and no, or only transitory, increases of serum T were found. In another patient, in spite of sustained gonadotropin responsiveness of GnRH throughout the treatment, no increase of serum T was seen which is probably due to additional primary Leydig cell deficiency. In the other four patients increases of serum T were observed which, however, did not reach the middle of the normal adult range. If stimulation of T secretion was achieved a further increase of serum T was observed after termination of the treatment. Thereafter, serum T returned to pretreatment values in one patient or stayed within the normal adult range in two other patients. No significant effects on clinical parameters were found with the GnRH therapy. This is probably due to the short duration of therapy in these patients as well as to the changes in serum T observed during the treatment, which are small in comparison to gonadotropin therapy.

[Refsum's syndrome (author's transl)]. / Refsum-Syndrom (Heredopathia atactica polyneuritiformis). Klinik, Diagnostik und diätetische Behandlung.

Heredopathia atactica polyneuritiformis (Refsum's syndrome) is an autosomal recessively inherited lipidosis characterized by the following signs: peripheral hypertrophic polyneuropathy, cerebellar ataxia, atypical retinitis pigmentosa with night blindness and concentric limitation of the visual fields, anosmia, inner ear hearing disturbances, skeletal anomalies, ichthyotic skin changes, raised protein in the CSF without a cellular increase, and non-specific ECG changes. Biochemically it is a lipidosis with atypical increase of phytanic acid in blood, CSF, and tissues. The metabolic defect results from a degradation disturbance of exogenous phytanic acid. The report of a patient whose clinical picture plus chemical, neurophysiological and histological results led to the diagnosis of Refsum's syndrome is presented. Using a low phytol- and phytanic-acid diet a marked decrease of phytanic acid in the serum and an improvement of the clinico-neurological signs were observed.

Quantitative determination of glycosphingolipids in human plasma.

A method is described for the quantitative isolation and estimation of the four glycosphingolipid fractions from 10 ml of human plasma. The procedure consists of acetylation of the total lipids after extraction, separation of acetylated glycophingolipids from non-glycolipids on a Florisil column, deacetylation, dialysis in water, separation of the single fractions by thin-layer chromatography on silica gel, and quantitative analysis of each glycosphingolipid by sulfuric acid-orcinol reagent, carried out in the presence of silica gel. The concentrations of the four glycosphingolipids in human plasma derived from a group of 23 healthy subjects are presented. The procedure described is sufficiently sensitive for clinical investigation.

[Concentration of plasma glycosphingolipids in acute hepatitis (author's transl)]. / Konzentrationsverhalten der Plasmaglycosphingolipide bei akuter Hepatitis

There are mainly four neutral glycosphingolipids in human blood plasma: Monohexosyl, dihexosyl, trihexosyl and tetrahexosyl ceramide. In patients with viral hepatitis (n=21) during the acute phase all four fractions of plasma glycosphingolipids were elevated compared to healthy subjects (n=23). With the exception of trihexosyl ceramide all fractions demonstrated statistically striking elevations in the acute phase of viral hepatitis. Simultaneously in the acute phase of hepatitis triglycerides and cholesterol in serum were significantly increased. It is concluded the elevation of glycosphingolipid levels in plasma is a metabolic consequence of hyperlipoproteinemia. Furthermore it is supposed that a part of plasma glycosphingolipids is synthezised de novo by the liver like VLDL.

[Plasma glycosphingolipids: concentration and distribution in different types of hyperlipoproteinemia (author's transl)]. / Konzentration und Verteilung der Plasmaglycosphingolipide bei verschiedenen Hyperlipoproteinämien

There are mainly four neutral glycosphingolipids in human blood plasma: Monohexosyl, dihexosyl, trihexosyl and tetrahexosyl ceramide. In patients with hyperlipoproteinemia (hlp) type IIa (n = 10), type IIb (n = 9), type IV (n = 24), and type V (n = 11) all four fractions of plasma glycosphingolipids were elevated compared to healthy subjects (n = 23). In all types of hlp monohexosyl ceramides were significantly augmented (p less than 1%). Trihexosyl and tetrahexosyl ceramides demonstrated only in single types statistically striking elevation. There was no significant elevation of dihexosyl ceramides. In the VLDL the distribution of all glycosphingolipids showed increase in hlp type IV and type IIb. In the LDL the distribution showed increase in type IIa. There exists a strong correlation with the elevated prae-beta-lipoproteins respectively beta-lipoproteins. It is concluded that elevation of glycosphingolipid levels in plasma is a metabolic consequence of hyperlipoproteinemia. It is considered that a part of plasma glycosphingolipids is de novo synthesized by the liver like VLDL. The role of plasma glycosphingolipids in atherogenesis is discussed.

Plasma glycosphingolipids in diabetics and normals.

In diabetic patients with hyperlipoproteinemia type IV the monohexosyl ceramide concentration in blood plasma is significantly elevated. This augmentation can be attributed to an increased monohexosyl ceramide content of the BLDL plasma fraction. In contrast, the di-, tri-, the tetrahexosyl ceramide levels remain within normal limits. In normolipidemic diabetics of comparable age, sex, and weight classes and of comparable metabolic control no elevations of glycolipid fractions could be found. However, patients with primary hyperlipoproteinemia type IV show an increase of monohexosyl ceramide concentrations in blood plasma. Therefore, the augmentation of monohexosyl ceramide levels in plasma of hyperlipidemic diabetic patients seems rather a metabolic consequence of hyperlipoproteinemia than of diabetes per se. A clearcut explantation for the monohexosyl ceramide elevations in the studied groups cannot be given at present time.

[Angiokeratoma corporis diffusum (Fabry's disease). Biochemical diagnosis in plasma]. / Angiokeratoma corporis diffusum (Morbus Fabry) Biochemische Diagnostik im Blutphasma

In a 35-year-old man with the full picture of Fabry's disease there was an almost fourfold increase of trihexosylceramide concentration in plasma and a decrease in the alpha-galactosidase activity to 13 percent as compared with the values from a control group. Using the same biochemical methods it could be shown that two nephews of the patient are hemizygote carriers and that two sisters and the mother of the patient are heterozygote carriers. Causative treatment of the disease is unknown. In this patient the attacks of pain could be permanently improved with phenytoin and carbamazepin.