ACUTE INTERMITTEND PORPHYRIA (AIP)

Question 1

What is  ACUTE INTERMITTEND PORPHYRIA (AIP)?

Accepted Answer

rare (1:10000-1:100000)
autosomal dominant
mutation in the gene encoding hydroxymethylbilane synthase

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Akute intermittierende Porphyrie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 176000

Question 4

Which enzymes are involved?

Accepted Answer

porphobilinogen deaminase

Disease	ACUTE INTERMITTEND PORPHYRIA (AIP)
Synonym	PORPHYRIA, ACUTE INTERMITTEND; PORPHYRIA, ACUTE INTERMITTEND
OMIM	176000 OMIM = Online Mendelian Inheritance of Men
Orphanet	79276
Protein (UniProt)	porphobilinogen deaminase
ExPASy	2.5.1.61
Gene locus	11q23.3
ICD	E80.2
Summary	rare (1:10000-1:100000) autosomal dominant mutation in the gene encoding hydroxymethylbilane synthase
Laboratory findings	Porphobilinogen (PBG) inc (urine) 5-Aminolevulinic acid inc (urine) Magnesium dec (serum) Porphyrins inc (urine) Porphyrins inc (fecal) Sodium dec (serum)
Symptoms	ataxia behavior, abnormal or bizarre, confusion coma constipation hyperaesthesia hypertension liver involvement or dysfunction pain, abdominal pain, muscle psychosis red colored urine seizures syndrome of inappropriate antidiuretic hormone (SIADH) tachykardia urine color, abnormal vomiting behavior, anxiety diarrhea fever hyponatremia hypotonia muscle weakness nausea onset, adolescent paresthesia respiratory insufficiency sweating tremor or twitching