Homocystinuria- Are these symptons from his disorder?

[red2303]

My son is 32, he has homocystinuria.  His legs have just suddenly collapsed and he has fallen.  The first time he fell backwards down concrete stairs and fractured to vertebrae in his back on 7-28=11.  It happened again yesterday, but he was not hurt luckily.  What is causing this?

[maatson]

Methylmanolic aciduria,homocystinuria, and B12 deficiency could co-exist as a rare syndrome.The possible neurological episode? made me think of this.
Best wishes.

[Dr Santos]

Hi,
How is your son? Homocystinuria is an inherited disorder affecting the metabolism of the amino acid methionine. It usually presents with development and visual problems, chest deformities, chest deformities, high arches of the feet, knock knees, long limbs, and even nearsightedness. These symptoms may be contributory to his history of fall but I recommend that you have him see his doctor for proper evaluation. Vitamin B6 therapy have been shown to help about half of people affected by the condition. Take care and do keep us posted.

[maatson]

Possible megaloblastic anaemia(B12 deficiency) in association with homocystenuria.Do check with your doc.
Best wishes.