Metabolic disorders

Home Rare Disease Classifications Metabolic disorders Disorder of porphyrin and heme metabolism

Metabolic disorders ( Sub Categories )

Disorder of bilirubin metabolism and excretion

Bilirubin metabolism and excretion disorder is a condition affecting the body's processing of bilirubin, potentially leading to jaundice and its accumulation in the blood, causing liver and tissue complications.

Heme oxygenase-1 deficiency

Heme oxygenase-1 deficiency is a rare disorder affecting heme breakdown, leading to iron accumulation and oxidative stress, potentially causing anemia, inflammation, and vascular issues.

0 Communities 0 Users

Porphyria

Porphyria is a group of genetic disorders caused by defects in heme production, leading to porphyrin accumulation, which may cause skin sensitivity to light or neurological symptoms such as abdominal pain.

0 Communities 0 Users

X-linked sideroblastic anemia

X-linked sideroblastic anemia is a rare genetic disorder affecting hemoglobin production, leading to chronic anemia, fatigue, and pale skin, primarily affecting males.

0 Communities 0 Users