08-19-2017, 04:59 PM
S/S : Severe stiffness and pain on hips, back and knees. Bluish-gray discoloration of ear cartilage and sclerae and ↓ joint mobility.
Spinal X-ray shows disk degeneration combined w/dense calcification, particulary in the lumbar area
HOMOGENTISIC OXIDASE ENZYME DEFICIENCY, which is in the phenylalanine-tyrosine pathway blocking the degradation of HOMOGENTISIC ACID.
or Ochronosis. S/S Arthritis early age and Urine turns black upon standing.
The Deficiency Enzyme in this disorder is HOMOGENTISIC ACID OXIDASE
Spinal X-ray shows disk degeneration combined w/dense calcification, particulary in the lumbar area
HOMOGENTISIC OXIDASE ENZYME DEFICIENCY, which is in the phenylalanine-tyrosine pathway blocking the degradation of HOMOGENTISIC ACID.
or Ochronosis. S/S Arthritis early age and Urine turns black upon standing.
The Deficiency Enzyme in this disorder is HOMOGENTISIC ACID OXIDASE