Introduction
Pocket Metab
Impressum
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Diseases
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Symptoms
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Lab Parameters
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Authors
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Ramedis
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BH4 Patient
This is the list of current selected symptoms or laboratory findings.
In order to reduce this list click on one of this.
8-iso-prostaglandin F2alpha [+]
Azelaic acid [+]
mental retardation
Transaminases [+]
Associated Diseases
Laboratory Findings
Clinical Symptoms
ZELLWEGER SYNDROME
MIM:214100
12-Hydroxy-eicosatetraenoic acid
15-Hydroxy-eicosatetraenoic acid
8-iso-prostaglandin F2alpha
Adipic acid
Alkyl-dihydroxyacetone-phosphate synthase
Azelaic acid
Bile acid intermediates
C24:0/C22:0
C26:0
C26:0/C22:0
C26:1
Dicarboxylic acids urine
Dihydroxyacetone-phosphate acyltransferase (DHAPAT)
EEG abnormalities [-]
Iron
MRI brain abnormalities [-]
Peroxisomal 3-oxoacyl-CoA thiolase
Peroxisomal Acyl-CoA oxidase
Peroxisomal bifunctional enzyme
Peroxisomes liver
Phytanic acid oxidation
Phytanic acid
Pimelic acid
Pipecolic acid
Plasmalogens biosynthesis
Sebacic acid
Suberic acid
Transaminases
Very-long-chain fatty acid oxidation
Very-long-chain fatty acids
birthweight low (small for gestational age)
buphthalmus
cataract
cholestasis
cirrhosis or fibrosis of liver
clitoral hypertrophy
congenital heart defect
cryptorchism
dysmorphism
early death
epicanthus or medial eyelid fold
feeding difficulties, poor feeding
glaucoma
high arched palate
high forehead
hyporeflexia
hypotonia
large liver
large mid-face (broad, prominent)
liver failure
low set ears
mental retardation
motor retardation
nystagmus
onset, newborn
osteoporosis
ptosis (drooping eyelid)
renal cysts
retinitis pigmentosa
round facies (moon-face, broad)
seizures
shortened gestation time
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