-
recessive neurological disease that
results in the over-ac****ulation of
phytanic acid in
cells and tissues. It is one of
several disorders named after Norwegian...
-
Phytanic acid (or 3,7,11,15-tetramethyl
hexadecanoic acid) is a branched-chain
fatty acid that
humans can
obtain through the
consumption of
dairy products...
- In humans, alpha-oxidation is used in
peroxisomes to
break down
dietary phytanic acid,
which cannot undergo beta-oxidation due to its β-methyl branch, into...
-
hearing loss.
Although humans cannot derive phytanic acid from chlorophyll, they can
convert free
phytol into
phytanic acid. Thus,
patients with
Refsum disease...
- with
phytanic acid. In humans,
pristanic acid is
obtained from two sources:
either directly from the diet or as the
alpha oxidation product of
phytanic acid...
-
mutations in the PEX
family of genes. IRD is ****ociated with
deficient phytanic acid catabolism, as is
adult Refsum disease, but they are
different disorders...
- of very long
chain fatty acids and
branched chain fatty acids, such as
phytanic acid. In addition, PBD-ZSD
patients show
deficient levels of plasmalogens...
-
developmental disorders Phantom limb /
Phantom pain
Photic sneeze reflex Phytanic acid
storage disease Pick's
disease Pinched nerve Pituitary tumors Polyneuropathy...
- Hallopeau–Siemens disease) Refsum's
disease (heredopathia
atactica polyneuritiformis,
phytanic acid
storage disease)
Relapsing linear acantholytic dermatosis Restrictive...
-
chain fatty acids,
impaired very long
chain fatty acid beta-oxidation,
phytanic acid alpha-oxidation,
pristanic acid alpha-oxidation, and
plasmalogen biosynthesis...
