PedAM
Pediatric Disease Annotations & Medicines
| Disease | porphyria |
| Phenotype | C0162565|acute intermittent porphyria |
| Sentences | 12 |
| PubMedID- 21836671 | Acute intermittent porphyria (aip) has a triad of symptoms (abdominal pain, neuropathy and mental changes) and porphobilinogen in the urine. |
| PubMedID- 22704060 | Acute intermittent porphyria (aip) is an autosomal dominant inherited disease clinically characterized by life-threatening acute neurologic attacks and is biochemically defined by partial deficiency of porphobilinogen deaminase (pbgd) activity in the liver. |
| PubMedID- 25054769 | Firstreported the existence of acute intermittent porphyria in a case with systemic lupuserythematosus.1 informationhas gradually been collected on systemic lupus erythematosus that complicate a varietyof porphyria. |
| PubMedID- 26078946 | Reviewed the molecular heterogeneity of acute intermittent porphyria (aip) in argentinean patients. |
| PubMedID- 26222840 | Acute intermittent porphyria (aip) is caused by catalytic deficiency of porphobilinogen deaminase (pbgd), the third enzyme in heme biosynthesis. |
| PubMedID- 24700519 | Clinical phenotypes are classified as follows: (1) acute porphyrias with neurovisceral symptoms: acute intermittent porphyria; delta amino-levulinic acid hydratase deficiency porphyria; hereditary coproporphyria; and variegate porphyria and (2) cutaneous porphyrias with skin blistering and photosensitivity: porphyria cutanea tarda; congenital erythropoietic porphyria; hepatoerythropoietic porphyria and both erythropoietic protoporphyrias: autosomal dominant and x-linked. |
| PubMedID- 24603363 | Pbgd is associated with acute intermittent porphyria, a hereditary autosomal dominant disorder, caused due to mutations in human pbgd (hpbgd) resulting in elevated levels of the heme precursors ala (5-aminolevulinic acid) and pbg in the urine [5]. |
| PubMedID- 25697467 | Acute porphyria was diagnosed, with acute intermittent porphyria as the working diagnosis. |
| PubMedID- 25114422 | Hypokalemic paralysis (7.5%) and acute intermittent porphyria (4.5%) were also encountered in considerable numbers. |
| PubMedID- 26366103 | Acute intermittent porphyria (aip) is a rare inherited metabolic disease due to a deficiency of the hydroxymethylbilane synthase (hmbs) in heme biosynthesis.1 aip manifests after the puberty with occasional neuropsychiatric crises associated with accumulation of porphyrin precursors such as δ-aminolevulinic acid (ala) and porphobilinogen (pbg) which are released from the liver into the circulation1,2 (figure 1). |
| PubMedID- 21687623 | Acute intermittent porphyria (aip) is an autosomal dominant disorder caused by deficiency of porphobilinogen deaminase (pbgd), which is involved in the hepatic heme biosynthesis [1]. |
| PubMedID- 21358970 | Acute intermittent porphyria (aip) is associated with functional defects in both the central and peripheral nervous systems [271]. |
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