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Pocket Metab
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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.
eczematoid skin rush
Associated Diseases
Laboratory Findings
Clinical Symptoms
BIOTINIDASE DEFICIENCY
MIM:253260
INFECTIONS OF THE NEWBORN (TORCH) [DD]
NEONATAL DIABETES MELLITUS, ENTEROPATHY, THROMBOCYTOPENIA AND ENDOCRINOPATHY
MIM:304790
2-Hydroxybutyric acid
3-Hydroxybutyric acid
3-Hydroxyisovaleric acid
3-Hydroxyisovalerylcarnitine (C5-OH)
3-Hydroxypropionic acid
3-Methylcrotonylglycine
Acylcarnitin urine
Ammonia
Citrate
CT brain abnormalities [-]
Ketone bodies
Lactate
Methylcitric acid
pH
alopecia
anemia
ataxia
blindness, visual loss, visual impairment
cataract
cerebral atrophy
chorioretinitis
coma
conjunctivitis
corneal clouding
diarrhea
early death
eczematoid skin rush
encephalopathy
enteropathy, protein-loosing
failure to thrive
fatigue, severe or unusual
fetal akinesia/hypokinesia sequence
glaucoma
growth retardation
hair loss
hearing defect, deafness
heart involvement
hernia
hydrocephalus
hydrops fetalis
hyperammonemia
hyperglycemia
hypertonia, spasticity
hypotonia
ileus
infantile spasms
infections (severe or recurrent)
jaundice
ketosis
lactic acidosis
large liver
large spleen
mental retardation
metabolic acidosis
microcephaly
motor retardation
muscle weakness
myocarditis
onset, adolescent
onset, child
onset, infant
onset, newborn
optic atrophy
petechiae
pneumonia
prematurity
retinitis pigmentosa
seborrhoic skin rush
seizures
skeletal changes
spastic diplegia/quadriplegia
speech development, delayed, abnormal
spinal cord demyelinisation
stridor
tachypnea, hyperpnea, dyspnea, respiratory distress
thrombopenia, thrombocytopenia
vomiting
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