-
Homocystinuria (HCU) is an
inherited disorder of the
metabolism of the
amino acid
methionine due to a
deficiency of
cystathionine beta
synthase or methionine...
- disorder.[citation needed] The
exception is
methylmalonic acidemia and
homocystinuria, cblX type due to
variants in HCFC1 gene,
which is
inherited in an X-linked...
-
Marfan syndrome, Ehlers–Danlos syndromes, Loeys–Dietz syndrome, and
homocystinuria. It is also seen in
congenital contractural arachnodactyly,
which is...
- The CBS gene is the most
common locus for
mutations ****ociated with
homocystinuria. The
systematic name of this
enzyme class is L-serine hydro-lyase (adding...
- the risk of
thrombus formation.
Homocystinuria is the
second most
common cause of
heritable ectopia lentis.
Homocystinuria is an
autosomal recessive metabolic...
- effects. It can also be ****ociated with lupus,
polycythemia vera and
homocystinuria.
Malar flush is a plum-red
discolouration of the high ch****s. Mitral...
-
therapy for
inherited metabolic disorders, such as
phenylketonuria and
homocystinuria, and can also be used to
treat kidney or
liver disease. Low protein...
- ****ociated
conditions include:
Multiple endocrine neoplasia type 2B
Homocystinuria Ehlers-Danlos syndrome:
Marfanoid habitus is
generally ****ociated with...
-
Homocarnosinosis Homocystinuria due to
cystathionine beta-synthase
Homocystinuria due to
defect in
methylation (cbl g)
Homocystinuria due to
defect in...
-
disorders which affect connective tissue, such as
Marfan syndrome and
homocystinuria. Schachner,
Lawrence A.; Hansen,
Ronald C. (2011).
Pediatric Dermatology...
