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.
Glycine [+]
Ornithine [+]
spastic diplegia/quadriplegia
tachypnea, hyperpnea, dyspnea, respiratory distress
Associated Diseases
Laboratory Findings
Clinical Symptoms
ORNITHINE TRANSCARBAMYLASE DEFICIENCY (OTC)
MIM:311250
5-Oxoproline
Ammonia
Citrulline
Glutamine
Glycine
Lysine
MRI brain white matter abnormalities [-]
Ornithine
Orotic acid
Uracil
Urea nitrogen
ataxia
behavior, abnormal or bizarre, confusion
coma
failure to thrive
feeding difficulties, poor feeding
headache (severe, recurrent or occipital, migraine)
hyperammonemia
hypothermia
hypotonia
lethargy, drowsiness, malaise or sleep disorder
liver failure
liver involvement (acute, chronic, hepatitis)
mental retardation
onset, child
onset, newborn
previous deaths
seizures
spastic diplegia/quadriplegia
tachypnea, hyperpnea, dyspnea, respiratory distress
vomiting
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