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.
Lysine [+]
Ornithine [+]
spastic diplegia/quadriplegia
tachypnea, hyperpnea, dyspnea, respiratory distress
Associated Diseases
Laboratory Findings
Clinical Symptoms
HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA [HHH-SYNDROME]
MIM:238970
LYSINURIC PROTEIN INTOLERANCE (LPI)
MIM:222700
ORNITHINE TRANSCARBAMYLASE DEFICIENCY (OTC)
MIM:311250
2-Aminopiperid-2-one
5-Oxoproline
Ammonia
Arginine
bleeding time
Carnitine
Citrulline
Coagulopathy/Coagulation factors
Ferritin
Glutamine
Glycine
Homocitrulline
Hydroxyproline
Lactate dehydrogenase (LDH)
Lysine
MRI brain white matter abnormalities [-]
Ornithine
Orotic acid
Retikulocytes
Thyroxine binding globuline (TBG)
Uracil
Urea nitrogen
Amino acids, urine
anemia
ataxia
behavior, abnormal or bizarre, confusion
behavior, hyperactive, restless
bone fractures
bone marrow abnormality
cataract
coma
diarrhea
failure to thrive
feeding difficulties, poor feeding
growth retardation
hair, abnormal (thin, brittle)
headache (severe, recurrent or occipital, migraine)
hyperammonemia
hypothermia
hypotonia
interstitial pneumonitis
large liver
large spleen
lethargy, drowsiness, malaise or sleep disorder
liver failure
liver involvement (acute, chronic, hepatitis)
mental retardation
neutropenia (decreased neutrophils)
onset, child
onset, infant
onset, newborn
osteoporosis
pancreatitis
paraparesis/paraplegia
previous deaths
pulmonary alveolar proteinosis
renal failure, acute/chronic
respiratory distress
seizures
spastic diplegia/quadriplegia
tachypnea, hyperpnea, dyspnea, respiratory distress
thrombopenia, thrombocytopenia
vomiting
X-ray, abnormalities
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