[A rare metabolic disease: alkaptonuria--ochronosis].

The authors describe the case of a 40-year-old female patient. Since childhood her urine had caused black discoloration on her underwear. For about a year the skin of the axillae and pinnae had been bluish-black without subjective complaints.

[Glycosylated proteins, blood sugar levels and postnatal growth in very low birth weight (less than 1500 g) neonates].

The concentration of HbA1c, glycosilated serum proteins and blood glucose were followed up during the first eight postnatal weeks in 10 preterm babies of mean (+/- SD) birthweight and gestational age of 1259 +/- 140 g and 30.2 +/- 2.0 weeks, respectively.

[Exclusion of Sandhoff disease (Tay-Sachs 0 variant) by chorion biopsy].

Transcervical chorionic villus sampling with ultrasound guidance at the 11-th week of pregnancy was made at a woman with the history of one lethal case of Sandhoff disease. The total hexosaminidase and the hexosaminidase A were determined. At the 16-th week amniocentesis was performed and the characteristic enzymes were determined from the amniotic cell culture.

[Alkaptonuria-ochronosis].

The authors describe the case of a 40-year old female patient. Since her childhood she realised of her urine the black discoloration of the underwear. For about a year, without subjective complaints, blue-black color of the skin involved the axillae and pinnae.

Bicarnesine-treated carnitine deficient myopathy: clinico-chemical investigations.

Authors report on a Bicarnesine replacement therapy in an infant girl patient suffering from carnitine deficient myopathy diagnosed at 1 year of age. The hypotonic patient's motoric functions improved and she became able to walk as a result of therapy applied, but the pathological process generalized to encephalomyopathy. Free and esterified carnitine were determined from the serum and muscle biopsymaterial.