[Homocystinuria].

Abstract

It is reported on a female patient with a classical homocystinuria who showed all typical symptoms of the cystathionine-synthesis-insufficiency, such as tall stature, phacetomy, arachnodactyly, kyphoscoliosis, generalized osteoporosis and thromboembolisms. While homocystin in the blood plasma and the urine could be proved only in the patient, the concentration of plasma methionine was much increased also in the clinically completely inconspicuous sister.

• Authors: G Müller, H Lubs, G Seidlitz, U Schneyer, J Schneider
• Journal: Zeitschrift fur die gesamte innere Medizin und ihre Grenzgebiete (Z Gesamte Inn Med) Vol. 38 Issue 13 Pg. 344-7 (Jul 01 1983) ISSN: 0044-2542 [Print] Germany
• Vernacular Title: Homozystinurie.
• PMID: 6624167 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Amino Acids

Topics

• Adult
• Amino Acids (blood, urine)
• Chemical Phenomena
• Chemistry
• Female
• Homocystinuria (diagnosis, metabolism, pathology)
• Humans