What does ALA dehydratase do?
What does ALA dehydratase do?
ALA dehydratase enzymes catalyze the conversion of ALA into porphobilinogen (PBG) in the cytosol of cells in the liver and red blood cells and play a chief role in the biosynthetic pathway of heme. Due to defects in the enzyme, ALA accumulates within the red blood cells and hepatocytes.
What is ALA in porphyria?
ALAD porphyria is a very rare genetic metabolic disease characterized by almost complete deficiency of the enzyme delta-aminolevulinic acid (ALA) dehydratase. Deficiency of this enzyme leads to the accumulation of the porphyrin precursor ALA, which can potentially result in a variety of symptoms.
What causes ALA deficiency?
ALA dehydratase deficiency is a rare cause of hepatic porphyria, meaning that excess porphyrins originate from the liver rather than the bone marrow as in erythropoietic porphyrias….
| Aminolevulinic acid dehydratase deficiency porphyria | |
|---|---|
| Differential diagnosis | Lead poisoning, Tyrosinemia type I |
What is ALA in biology?
Aminolevulinic acid synthase (ALA synthase, ALAS, or delta-aminolevulinic acid synthase) is an enzyme (EC 2.3. 1.37) that catalyzes the synthesis of δ-aminolevulinic acid (ALA) the first common precursor in the biosynthesis of all tetrapyrroles such as hemes, cobalamins and chlorophylls.
What is a porphobilinogen urine test?
Urinary porphobilinogen (PBG) is elevated during the acute phase of the neurologic porphyrias. Urine and fecal porphyrin analysis should be performed to confirm the diagnosis and to distinguish between AIP, HCP and VP.
What is hepatic porphyria?
[1][2] Hepatic porphyrias are those in which the enzyme deficiency occurs in the liver. Hepatic porphyrias include acute intermittent porphyria (AIP), variegate porphyria (VP), aminolevulinic acid dehydratase deficiency porphyria (ALAD), hereditary coproporphyria (HCP), and porphyria cutanea tarda (PCT).
Do Porphyrias cause anemia?
Anemia. Two types of cutaneous porphyria, congenital erythropoietic porphyria and, less commonly, hepatoerythropoietic porphyria, may cause severe anemia. These diseases may also cause the spleen to become enlarged, which can make anemia worse.
How many types of porphyria are there?
The specific names of the eight types of porphyrias are: Delta-aminolevulinate-dehydratase deficiency porphyria. Acute intermittent porphyria. Hereditary coproporphyria.
How is ALA synthase regulated?
ALAS is an allosteric enzyme and its regulation is due to feedback inhibition by heme itself, the final product of the pathway. Heme is known to affect ALAS-1 activity by repressing gene transcription, accelerating mRNA degradation, and impeding pre-ALAS-1 mitochondrial translocation.
What is ALA in hemoglobin?
The production of heme is a multi-step process that requires eight different enzymes. ALA-synthase is responsible for the first step in this process, the formation of a compound called delta-aminolevulinic acid (ALA). In subsequent steps, seven other enzymes produce and modify compounds that ultimately lead to heme.
What is ALA dehydratase deficiency porphyria?
Delta-aminolevulinic acid (ALA) dehydratase deficiency porphyria (ADP) is a type of rare acute porphyria involving the ALA dehydratase enzyme, which is the second … Ala Dehydratase Deficiency Porphyria Review In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan. 2021 Jul 8. Authors
What is Doss porphyria?
Aminolevulinic acid dehydratase deficiency porphyria (also known as ” Doss porphyria “, and ” plumboporphyria “) is a neuropsychiatric condition, disease can present during early childhood (as well as in adulthood) with acute neurologic symptoms that resemble those encountered in acute intermittent porphyria.
What is alaalad porphyria?
ALAD porphyria is a very rare genetic metabolic disease characterized by almost complete deficiency of the enzyme delta-aminolevulinic acid (ALA) dehydratase.
What is the medical term for porphyria?
Porphyria is derived from the Greek word “porphyra,” which signifies the purple-red color of urine due to the accumulation of porphyrins. Delta-aminolevulinic acid (ALA) dehydratase deficiency porphyria (ADP) is a type of rare acute porphyria involving the ALA dehydratase enzyme, which is the second …