Name : Fatima Al-Na’imat.
Course : General Genetics.
What Is Porphyria?
Porphyria is a group of genetics disorders caused by
abnormalities in the chemical steps that lead to
h...
Heme is a vital molecule for all of the body's organs,
although it is most abundant in the blood, bone
marrow, and liver. ...
Types of Prophyria
Researchers have identified several types of porphyria,
which are distinguished by their genetic cause ...
Cutaneous Porphyrias
Primarily affect the skin. Areas of skin exposed to the
sun become fragile and blistered, which can l...
Type of
Porphyria

Deficient
Enzyme

Responsible
Gene

Type of
Inheritance

Congenital
erythropoietic
porphyria

uroporphy...
Variegate
porphyria

protoporphyrin PPOX gene
On
ogen oxidase
chromosome 1

Erythropoietic ferrochelatase
protoporphyria

...
Acute Porphyrias
Primarily affect the nervous system. Episodes of acute
porphyria can cause abdominal pain, vomiting,
cons...
Type of
Prophyria

Deficient
Enzyme

Responsible
Gene

Type of
Inheritance

ALAD porphyria

deltaaminolevulinic
acid dehyd...
Other type that doesn’t belong to the previous categories
is X-linked sideroblastic anemia (XLSA).
Related genes are ALAS2...
Common features include fatigue, dizziness, a rapid
heartbeat, pale skin, and an enlarged liver and spleen
(hepatosplenome...
Thank You for
Listening
Porphyria
Porphyria
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Porphyria

  1. 1. Name : Fatima Al-Na’imat. Course : General Genetics.
  2. 2. What Is Porphyria? Porphyria is a group of genetics disorders caused by abnormalities in the chemical steps that lead to heme production. Other names: Hematoporphyria porphyrin disorder
  3. 3. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin.
  4. 4. Types of Prophyria Researchers have identified several types of porphyria, which are distinguished by their genetic cause and their signs and symptoms. They are two major types, cutaneous porphyrias and acute porphyrias.
  5. 5. Cutaneous Porphyrias Primarily affect the skin. Areas of skin exposed to the sun become fragile and blistered, which can lead to infection, scarring, changes in skin coloring (pigmentation), and increased hair growth.
  6. 6. Type of Porphyria Deficient Enzyme Responsible Gene Type of Inheritance Congenital erythropoietic porphyria uroporphyrinogen III cosynthase UROS gene, on chromosome 10 Autosomal Porphyria cutanea tarda uroporphyrinogen decarboxylase (~50% deficiency) UROD gene, Chromosome 1 Autosomal dominant recessive
  7. 7. Variegate porphyria protoporphyrin PPOX gene On ogen oxidase chromosome 1 Erythropoietic ferrochelatase protoporphyria Autosomal dominant FECH gene Autosomal on dominant chromosome 18 Hereditary coproporphyrin CPOX gene coproporphyria ogen oxidase chromosome 3 Autosomal dominant
  8. 8. Acute Porphyrias Primarily affect the nervous system. Episodes of acute porphyria can cause abdominal pain, vomiting, constipation, and diarrhea. During an episode, a person may also experience muscle weakness, seizures, fever, and mental changes such as anxiety and hallucinations.
  9. 9. Type of Prophyria Deficient Enzyme Responsible Gene Type of Inheritance ALAD porphyria deltaaminolevulinic acid dehydratase ALAD gene on chromosome 9 Autosomal recessive acute intermittent porphyria hydroxymethylbila HMBS gene ne (HMB) on chromosome 11 synthase or PBG deaminase Autosomal dominant hereditary coproporphyria coproporphyrinog en oxidase CPOX gene on chromosome 3 Autosomal dominant Variegate porphyria protoporphyrinoge PPOX gene n oxidase On chromosome 1 Autosomal dominant
  10. 10. Other type that doesn’t belong to the previous categories is X-linked sideroblastic anemia (XLSA). Related genes are ALAS2 gene which found on Xchromosome, the deficient enzyme is aminolevulinate, delta-, synthase 2. It’s inherited in an X-linked recessive pattern.
  11. 11. Common features include fatigue, dizziness, a rapid heartbeat, pale skin, and an enlarged liver and spleen (hepatosplenomegaly). Over time, severe medical problems such as heart disease and liver damage (cirrhosis) can result from the buildup of excess iron in these organs.
  12. 12. Thank You for Listening
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