Global InformationAminolevulinic acid dehydratase deficiency porphyria information
| Aminolevulinic acid dehydratase deficiency porphyria | |
|---|---|
| Other names | Porphyria due to ALA dehydratase deficiency |
 | |
| ALA dehydratase deficiency has an autosomal recessive pattern of inheritance. | |
| Specialty | Gastroenterology, dermatology, medical genetics, endocrinology  |
| Differential diagnosis | Lead poisoning, Tyrosinemia type I |
Aminolevulinic acid dehydratase deficiency porphyria (also known as "Doss porphyria",[1] "plumboporphyria",[1] or "ADP"[2]) is an extremely rare autosomal recessive metabolic disorder that results from inappropriately low levels of the enzyme delta-aminolevulinic acid dehydratase (ALAD), which is required for normal heme synthesis. This deficiency results in the accumulation of a toxic metabolic precursor in the heme synthesis pathway called aminolevulinic acid (ALA).[2] Lead poisoning can also disrupt ALAD and result in elevated ALA causing the same symptoms.[3][4][5][6][7] Heme is a component of hemoglobin which carries oxygen in red blood cells.
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.[8][9]
- ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- ^ a b "ALAD-Deficiency Porphyria (ADP)". American Porphyria Foundation. Retrieved 2020-06-29.
- ^ Vannotti A (1954). Porphyrins: Their Biological and Chemical Importance. Hilger & Watts, Hilger Division. p. 126.
Indeed, lead poisoning, like all porphyrin diseases, is accompanied by obstinate constipation, nervous lesions, hyperpigmentation and abdominal attacks.
- ^ Dancygier H (2009). Clinical Hepatology: Principles and Practice of Hepatobiliary Diseases. Springer Science & Business Media. p. 1088. ISBN 9783642045196. Archived from the original on 8 September 2017.
The metabolic abnormalities in lead poisoning are very similar with the ALADP (Doss porphyria)
- ^ Akshatha LN, Rukmini MS, Mamatha TS, Sadashiva Rao P, Prashanth B (December 2014). "Lead poisoning mimicking acute porphyria!". Journal of Clinical and Diagnostic Research. 8 (12): CD01-2. doi:10.7860/JCDR/2014/10597.5315. PMC 4316248. PMID 25653942.
- ^ Tsai MT, Huang SY, Cheng SY (2017). "Lead Poisoning Can Be Easily Misdiagnosed as Acute Porphyria and Nonspecific Abdominal Pain". Case Reports in Emergency Medicine. 2017: 9050713. doi:10.1155/2017/9050713. PMC 5467293. PMID 28630774.
- ^ Wang, B.; Bissell, D. M.; Adam, M. P.; Ardinger, H. H.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Stephens, K.; Amemiya, A. (2018). "Hereditary Coproporphyria". GeneReviews. PMID 23236641. Retrieved 28 February 2020.
the symptoms in lead poisoning closely mimic those of acute porphyria
- ^ Jaffe EK, Stith L (February 2007). "ALAD porphyria is a conformational disease". American Journal of Human Genetics. 80 (2): 329–37. doi:10.1086/511444. PMC 1785348. PMID 17236137.
- ^ Doss M, von Tiepermann R, Schneider J, Schmid H (October 1979). "New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation". Klinische Wochenschrift. 57 (20): 1123–7. doi:10.1007/bf01481493. PMID 513604. S2CID 11400691.