ACRODERMATITIS ENTEROHEPATHICA

Question 1

What is  ACRODERMATITIS ENTEROHEPATHICA?

Accepted Answer

rare
autosomal recessive
mutation in the intestinal zinc-specific transporter SLC39A4
onset often after weaning from breast to cows milk

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Akrodermatitis enteropathica

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 201100

Question 4

Which enzymes are involved?

Accepted Answer

Zinc transporter ZIP4

Disease	ACRODERMATITIS ENTEROHEPATHICA
Synonym	ACRODERMATITIS ENTEROHEPATHICA, ZINC DEFICIENCY TYPE; DANBOLDT-CLOSS-SYNDROM; BRANDT-SYNDROM
OMIM	201100 OMIM = Online Mendelian Inheritance of Men
Orphanet	37
Protein (UniProt)	Zinc transporter ZIP4
Gene locus	8q24.3
ICD	E83.2
Summary	rare autosomal recessive mutation in the intestinal zinc-specific transporter SLC39A4 onset often after weaning from breast to cows milk
Laboratory findings	Ammonia normal/inc (blood) Phosphatase, alkaline normal/dec (serum) Zinc dec (serum)
Symptoms	alopecia anorexia ataxia blepharitis conjunctivitis depression dermatitis diarrhea failure to thrive growth retardation, poor growth hepatomegaly (large liver) hyperammonemia infections (local, abscesses) infections (severe or recurrent) irritability lethargy, drowsiness, apathy 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