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Summary
ACRODERMATITIS ENTEROHEPATHICA
ACRODERMATITIS ENTEROHEPATHICA, ZINC DEFICIENCY TYPE DANBOLDT-CLOSS-SYNDROM BRANDT-SYNDROM
201100
OMIM = Online Medalian Inheritance of Men
37
8q24.3
  • zinc
rare
autosomal recessive
mutation in the intestinal zinc-specific transporter SLC39A4
onset often after weaning from breast to cows milk
symptoms
alopecia
anorexia
ataxia
blepharitis
conjunctivitis
dermatitis
diarrhea
failure to thrive
growth retardation
hepatomegaly (large liver)
hyperammonemia
infections (local, abscesses)
irritability
lethargy, drowsiness, malaise or sleep disorder
night blindness
nystagmus
onset, childhood
onset, infancy
photophobia or photosensitive defect in light-exposed area
short stature
skin rash, eczematous or seborrhoic
splenomegaly (large spleen)
stomatitis
tremor or twitching
laboratory finding
Zinc 9.8016.80decreasedserum
Ammonia 25.0080.00normal/increasedblood
Phosphatase, alkaline 20.00150.00decreased activityserum
Literature
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