Information om | Engelska ordet ALKAPTONURIA

Exempel på hur man kan använda ALKAPTONURIA i en mening

• Working with William Bateson, Garrod came to understand the pattern of alkaptonuria appearance in children based on Mendelian principles.
• Darker urine can also be due to other chemicals, such as various ingested dietary components or drugs, porphyrins in patients with porphyria, and homogentisate in patients with alkaptonuria.
• Accumulation of excess homogentisic acid and its oxide, named alkapton, is a result of the failure of the enzyme homogentisic acid 1,2-dioxygenase (typically due to a mutation) in the degradative pathway of tyrosine, consequently associated with alkaptonuria.
• Thus, defects in this enzyme may lead to severe metabolic disorders, including alkaptonuria, phenylketonuria and tyrosinaemia, and new discoveries may allow the enzyme to protect against certain diseases related to oxidative stress.
• The tetrad comprises four inherited metabolic diseases: albinism, alkaptonuria, cystinuria, and pentosuria.
• When Garrod studied alkaptonuria, a disorder that makes urine quickly turn black due to the presence of gentisate, he noticed that it was prevalent among populations whose parents were closely related.

Förberedelsen av sidan tog: 187,62 ms.