I-REFSUMS D[sEASE -
disease
Phytanie Acid storage
Inbrodvcion
Jnherited defect in d- Oxielation of
fatty acids nteta.
AuTOSoMAL RECESSIVE
DEFECT: -oxication defect Phytanic a id
&o-Corbon
ConVersion of
due to
to is tanoic a i d , hydooxylase
Thytanic aid oxidase
EvzyM Defet - phytale acid
or in
Phytonic cc
EFFECT Acaimdahien of kighesy
shoatß Tn blood,
Fatty issves, Myel
EyEs &
8 Liver
FEATURES
lo y» of age
Symptoms before
aINICAL
ONSET DF
even
Later. Retiniis pqressive Lassof
Can Pigmertasa poiplel isim)
ATRIAD oF SyMP TOMS
Fheiphesne (Bienig
Pnckir
B-0THER SyM PTO
MS: Netopathysons on
Legs )
Hi, Avchet of Ams 8
Archecl palat
Ex tyei hes Coocbellay Atxi
d+chy myscle
Drg. Rongh faile of
Co-oation
Skin
Gait wit
nstea dy
frequt fls
disease
Phytanie Acid storage
Inbrodvcion
Jnherited defect in d- Oxielation of
fatty acids nteta.
AuTOSoMAL RECESSIVE
DEFECT: -oxication defect Phytanic a id
&o-Corbon
ConVersion of
due to
to is tanoic a i d , hydooxylase
Thytanic aid oxidase
EvzyM Defet - phytale acid
or in
Phytonic cc
EFFECT Acaimdahien of kighesy
shoatß Tn blood,
Fatty issves, Myel
EyEs &
8 Liver
FEATURES
lo y» of age
Symptoms before
aINICAL
ONSET DF
even
Later. Retiniis pqressive Lassof
Can Pigmertasa poiplel isim)
ATRIAD oF SyMP TOMS
Fheiphesne (Bienig
Pnckir
B-0THER SyM PTO
MS: Netopathysons on
Legs )
Hi, Avchet of Ams 8
Archecl palat
Ex tyei hes Coocbellay Atxi
d+chy myscle
Drg. Rongh faile of
Co-oation
Skin
Gait wit
nstea dy
frequt fls
