ALAD Porphyria

Porphyrias are diseases caused by enzymatic defects in the

biosynthetic pathway of heme; sensorimotor neuropathy and
cutaneous photosensitivity may manifest, depending on where in the
pathway the insult occurs. Delta-aminolevulinic acid dehydratase
(ALAD), also known as porphobilinogen synthase, catalyzes the second
step of heme synthesis. Deficiency of this enzyme produces ALAD
deficiency porphyria (ADP), an extremely rare cause of acute porphyria.

CI esterase deficiency

Acquired C1 esterase inhibitor deficiency presents with symptoms

indistinguishable from hereditary angioedema, but generally with onset
after the fourth decade of life. C4 levels are low and C3 levels are
normal.

Gout

Gout is a disorder that is related to excess production and

deposition of uric acid crystals. Uric acid is the byproduct of purine
nucleotide catabolism. The root cause of gout is hyperuricemia and it is
characterized by recurrent attacks of acute inflammatory arthritis.

Kristina Pama
11-Follosco