[source]
pmid = PMID:8755636
title = Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient
[diagnosis]
disease_id = OMIM:236200
disease_label = Homocystinuria, B6-responsive and nonresponsive types
[text]
The patient is a woman, now 20 y of age, who had been admitted to the hospital at the
age of nine years because of psychomotoric retardation and marfanoid features such as
excessive height,
dolichostenomelia, and arachnodactyly.  At present time, i.e., 11 y after diagnosing and start of therapy, she is in a
very good physical condition and her intellectual development has reached an average level.
Her length is 182 cm and weight 75 kg. She has not any physical complaint.
Ectopia lentis, osteoporosis, and vascular complications did
not occur until now.
Hyperhomocysteinemia and hypermethioninemia were observed in our patient when compared to controls.