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.
preeclampsia, maternal
Associated Diseases
Laboratory Findings
Clinical Symptoms
ARGININOSUCCINIC ACIDURIA (ASL)
MIM:207900
LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (LCAD)
MIM:201460
LONG-CHAIN-3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (LCHAD)
MIM:143450
3-Hydroxyacyl-CoA dehydrogenase
3-Hydroxyadipic acid
3-Hydroxybutyric acid
3-Hydroxyoleoylcarnitine (C18:1-OH)
3-Hydroxypalmitoylcarnitine (C16-OH)
3-Hydroxysebacic acid
3-Hydroxystearoylcarnitine (C18-OH)
3-Hydroxysuberic acid
Acylcarnitin urine
Acylcarnitine/carnitine ratio
Ammonia
Arginine
Argininosuccinase
Argininosuccinate
Carnitine
Citrulline
Creatinine kinase
Dicarboxylic acids urine
ECG abnormalities [-]
EEG abnormalities [-]
Glucose
Glutamine
Glycine
Lactate
Long chain acyl carnitines
Long chain acyl-CoA dehydrogenase
Long chain dicarboxylic acids
Long-chain 3-hydroxyacyl-CoA dehydrogenase
Long-chain acyl-CoAs
Lysine
Myoglobin
Oleoylcarnitine (C18:1)
Orotic acid
pH
Sebacic acid
Suberic acid
Transaminases
Uracil
Uric acid
Amino acids, plasma
Amino acids, urine
behavior, autism or autistic-like
behavior, hyperactive, restless
blindness, visual loss, visual impairment
brown colored urine
cardiac arrhythmia, dysrhythmia
cardiomyopathy
cirrhosis or fibrosis of liver
coma
diarrhea
early death
edema
encephalopathy
failure to thrive
feeding difficulties, poor feeding
growth retardation
HELLP syndrome
hyperammonemia
hypoglycemia
hypotonia
lactic acidosis
large liver
lethargy, drowsiness, malaise or sleep disorder
liver failure
liver involvement (acute, chronic, hepatitis)
maternal acute fatty liver of pregnancy
mental retardation
metabolic acidosis
microcephaly
motor retardation
myopathy
neurological deterioration
onset, child
onset, infant
onset, newborn
Organic acids, plasma
Organic acids, urine
pericardial effusion
peripheral neuropathy
pili torti
preeclampsia, maternal
retinal or macular degeneration
retinitis pigmentosa
retinopathy
rhabdomyolysis
seizures
shortened gestation time
spastic diplegia/quadriplegia
speech development, delayed, abnormal
steatorrhea
tachypnea, hyperpnea, dyspnea, respiratory distress
trichorrhexis nodosa
vomiting
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