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Items: 3

1.

Nitisinone

MedGen UID:
104395
Concept ID:
C0173083
Organic Chemical; Pharmacologic Substance
2.

Alkaptonuria

Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. The three major features of alkaptonuria are the presence of HGA in the urine, ochronosis (bluish-black pigmentation in connective tissue), and arthritis of the spine and larger joints. Oxidation of the HGA excreted in the urine produces a melanin-like product and causes the urine to turn dark on standing. Ochronosis occurs only after age 30 years; arthritis often begins in the third decade. Other manifestations include pigment deposition, aortic or mitral valve calcification or regurgitation and occasionally aortic dilatation, renal stones, and prostate stones. [from GTR]

MedGen UID:
1413
Concept ID:
C0002066
Disease or Syndrome
3.

Ochronosis

A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis. [from NCI]

MedGen UID:
45177
Concept ID:
C0028817
Disease or Syndrome
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