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.
abdominal distension
Associated Diseases
Laboratory Findings
Clinical Symptoms
CONGENITAL CHLORIDE DIARRHEA
MIM:214700
CONGENITAL SECRETORY DIARRHOEA
MIM:270420
FEEDING: NUTRITIONAL DEFICIENCIES RESULTING FROM MILK ALTERNATIVES [DD]
FEEDING: THIAMINE DEFICIENY [DD]
Albumin
Bicarbonate
Chloride
Folate
Lactate
Potassium
Sarcosine
Sodium
Transketolase
abdominal distension
Amino acids, urine
anemia
cardiomyopathy
dehydration
diarrhea
edema
encephalopathy
failure to thrive
hyperaldosteronism
ileus
infections (severe or recurrent)
irritability
jaundice
kwashiorkor
lactic acidosis
lethargy, drowsiness, malaise or sleep disorder
metabolic acidosis
metabolic alkalosis
motor retardation
nystagmus
onset, fetus
onset, newborn
ophthalmoplegia
polyhydramnion (maternal)
renal failure, acute/chronic
rickets
skin defects
skin, pigmentation
sparse or absent scalp hair (focal or general)
vomiting
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