-
Alkaptonuria is a rare
inherited genetic disease which is
caused by a
mutation in the HGD gene for the
enzyme homogentisate 1,2-dioxygenase (EC 1.13.11...
-
pioneered the
field of
inborn errors of metabolism. He also
discovered alkaptonuria,
understanding its inheritance. He
served as
Regius Professor of Medicine...
- enzyme" hypothesis,
based on his
studies on the
nature and
inheritance of
alkaptonuria. His
seminal text,
Inborn Errors of Metabolism, was
published in 1923...
- 1,2
dioxygenase is
involved in a type of
metabolic diseases,
called alkaptonuria. This
disorder is due to the
inability of the body to deal with homogentisate...
-
known as the
Tyndall effect. The
condition is most
often ****ociated with
alkaptonuria, but can
occur from
exogenous administration of
phenol complexes such...
- in the
degradative pathway of tyrosine,
consequently ****ociated with
alkaptonuria. It is an
intermediate in the
catabolism of
aromatic amino acids such...
- 1908. The
tetrad comprises four
inherited metabolic diseases: albinism,
alkaptonuria, cystinuria, and pentosuria.
Archibald E. Garrod.
Inborn Errors of Metabolism:...
- it is non-Mendelian.
Albinism (recessive): 53 Achondroplasia: 53
Alkaptonuria: 53, 263
Ataxia telangiectasia: 53
Brachydactyly (shortness of fingers...
- but the
resulting pathology is the same as for
primary osteoarthritis:
Alkaptonuria Congenital disorders of
joints Diabetes doubles the risk of
having a...
- ****stan, East Africa, and the UK. Al-Kafaàt University, Beirut,
Lebanon Alkaptonuria, or
black urine disease Algemene Kunstzijde Unie, a
Dutch company merged...
