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Что (кто) такое myopathic porphyria - определение
HUMAN DISEASE
Porphyria, variegate; Mixed hepatic porphyria; Mixed porphyria; South African genetic porphyria; South African porphyria
Aminolevulinic acid dehydratase deficiency porphyria
PORPHYRIA THAT HAS SYMPTOM ABDOMINAL PAIN, HAS SYMPTOM NEUROPATHY, HAS SYMPTOM AUTONOMIC INSTABILITY AND HAS SYMPTOM PSYCHOSIS
ALA dehydratase deficiency; Aminolevulinate dehydratase deficiency; ALAD porphyria; ALA deficiency porphyria; Doss porphyria; Plumboporphyria; ALA-D deficiency porphyria; ALA dehydratase deficiency porphyria; Porphyria, Ala-D; Wikipedia talk:Articles for creation/Aminolevulinic Acid Dehydratase Porphyria; User:Thedopestdope123/sandbox; Aminolevulinate dehydratase deficiency porphyria
Aminolevulinic acid dehydratase deficiency porphyria (also known as "Doss porphyria", "plumboporphyria", or "ADP") 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).
Acute intermittent porphyria
HUMAN DISEASE
Acute Intermittent Porphyria; Porphyria, acute intermittent
Acute intermittent porphyria (AIP) is a rare metabolic disorder affecting the production of heme resulting from a deficiency of the porphobilinogen deaminase. It is the most common of the acute porphyrias.
porphyria
![Heme synthesis—note that some reactions occur in the [[cytoplasm]] and some in the [[mitochondrion]] (yellow)](https://commons.wikimedia.org/wiki/Special:FilePath/Heme synthesis.svg?width=200 "Heme synthesis—note that some reactions occur in the [[cytoplasm]] and some in the [[mitochondrion]] (yellow)")
![George III]] in his coronation robes](https://commons.wikimedia.org/wiki/Special:FilePath/Allan Ramsay - King George III in coronation robes - Google Art Project.jpg?width=200 "George III]] in his coronation robes")
![Thomas Hickey]].](https://commons.wikimedia.org/wiki/Special:FilePath/Maria I, Queen of Portugal - Giuseppe Troni, atribuído (Turim, 1739-Lisboa, 1810) - Google Cultural Institute.jpg?width=200 "Thomas Hickey]].")
INHERITED METABOLIC DISORDER INVOLVING THE BUILD-UP OF PORPHYRINS
Coproporhyria; Coproporphyrinogen oxidase deficiency; Hereditary erythropoietic porphyria; Porphyrias; Congenital sideroblastic anaemia; Anemia, hereditary sideroblastic; Anemia, sex-linked hypochromic sideroblastic; ANH1; Erythropoetic porphyrias; Congenital erythropoetic porphyria; XLSA; Porphyria variegata; Prophyria; Porphiria; Poryphoric hemophilia; Erythropoietic uroporphyria; Erythroid 5-aminolevulinate synthetase deficiency; Porferia; Porphilia; Erythropoietic porphyria, congenital; Cutaneous porphyria; Porfyria; The Vampire Disease; Chester porphyria; Toxic porphyria; Porphyrin abnormality affecting the skin; Acute porphyria
[p?:'f?r??]
¦ noun Medicine a rare hereditary disorder of haemoglobin metabolism causing mental disturbance, extreme sensitivity to light, and excretion of dark pigments in the urine.
Origin
1920s: mod. L., from porphyrin.
Википедия
Variegate porphyria
Variegate porphyria, also known by several other names, is an autosomal dominant porphyria that can have acute (severe but usually not long-lasting) symptoms along with symptoms that affect the skin. The disorder results from low levels of the enzyme responsible for the seventh step in heme production. Heme is a vital molecule for all of the body's organs. It is a component of hemoglobin, the molecule that carries oxygen in the blood.
