DELTA-AMINOLEVULINIC ACID DEHYDRATASE-DEFICIENT PORPHYRIA (ALAD)

Question 1

What is  DELTA-AMINOLEVULINIC ACID DEHYDRATASE-DEFICIENT PORPHYRIA (ALAD)?

Accepted Answer

very rare
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Porphyrie durch delta-Aminolävulinsäure-Dehydratase-Mangel; Doss-Porphyrie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 612740

Question 4

Which enzymes are involved?

Accepted Answer

Delta-aminolevulinic acid dehydratase

Disease	DELTA-AMINOLEVULINIC ACID DEHYDRATASE-DEFICIENT PORPHYRIA (ALAD)
Synonym	PORPHYRIA, ACUTE HEPATIC
OMIM	612740 OMIM = Online Mendelian Inheritance of Men
Orphanet	100924
Protein (UniProt)	Delta-aminolevulinic acid dehydratase
ExPASy	4.2.1.24
Gene locus	9q32
ICD	E80.2
Summary	very rare autosomal recessive
Laboratory findings	Coproporphyrin III inc (urine) Porphobilinogen (PBG) normal/inc (urine) 5-Aminolevulinic acid inc (urine) Delta-aminolevulinic acid dehydratase dec (erythrocytes) Porphyrins inc (urine) Porphyrins inc (erythrocytes)
Symptoms	anemia failure to thrive hepatomegaly (large liver) hypertension hypotonia ileus muscle weakness nausea onset, adolescent onset, childhood onset, infancy pain, abdominal pain, muscle peripheral neuropathy splenomegaly (large spleen) vomiting