-
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...
- bone m****,
weakened bones,
increased brittleness, and
short stature.
Alkaptonuria -
inborn error of
metabolism caused by
mutations in the HGO gene and...
- in the
degradative pathway of tyrosine,
consequently ****ociated with
alkaptonuria. It is an
intermediate in the
catabolism of
aromatic amino acids such...
- enzyme" hypothesis,
based on his
studies on the
nature and
inheritance of
alkaptonuria. His
seminal text,
Inborn Errors of Metabolism, was
published in 1923...
-
known as the
Tyndall effect. The
condition is most
often ****ociated with
alkaptonuria, but can
occur from
exogenous administration of
phenol complexes such...
- it is non-Mendelian.
Albinism (recessive): 53 Achondroplasia: 53
Alkaptonuria: 53, 263
Ataxia telangiectasia: 53
Brachydactyly (shortness of fingers...
-
responsible for
distinct disease phenotypes. Some of
these diseases include alkaptonuria, albinism, achondroplasia, and phenylketonuria. For example, β-thal****emia...
- 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...
- of L-tyrosine to the use of
engineered strains of E. coli.
Albinism Alkaptonuria Betalain Iodinated tyrosine derivatives Pauly reaction Tyramine Tyrosine...
