porphyria

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por·phyr·i·a

 (pôr-fîr′ē-ə)
n.
Any of several disorders of porphyrin metabolism, usually hereditary, characterized by the presence of large amounts of porphyrins in the blood and urine.

[New Latin : porphyr(in) + -ia.]

por·phyr′ic adj.

porphyria

(pɔːˈfɪrɪə)
n
(Pathology) a hereditary disease of body metabolism, producing abdominal pain, mental confusion, etc
[C19: from New Latin, from porphyrin a purple substance excreted by patients suffering from this condition, from Greek porphura purple]

por•phyr•i•a

(pɔrˈfɪər i ə, -ˈfaɪ ri ə)

n.
a hereditary defect of blood pigment metabolism marked by an excess of porphyrins in the urine and an extreme sensitivity to sunlight.
[1920–25]

porphyria

A group of disorders that all cause excess of the nitrogenous factors in hemoglobin (which transports oxygen) in the blood. The symptoms are severe.
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.porphyria - a genetic abnormality of metabolism causing abdominal pains and mental confusion
Translations

porphyria

[pɔːˈfɪrɪə] Nporfirismo m

por·phyr·i·a

n. porfiria, defecto metabólico congénito que se caracteriza por exceso de porfirina en la sangre, en la orina y en las heces fecales, causando numerosos trastornos físicos y psiquiátricos.

porphyria

n porfiria; — cutanea tarda porfiria cutánea tarda
References in periodicals archive ?
In addition, it enables Alnylam to build a global presence and commercial infrastructure that can be leveraged for ALN-TTRsc02 and additional programs including givosiran, an investigational RNAi therapeutic for the treatment of acute hepatic porphyrias, and cemdisiran, an investigational RNAi therapeutic for the treatment of complement-mediated diseases where Alnylam has retained global ownership.
M2 PHARMA-January 8, 2018-Alnylam Act Program Expands to Include Genetic Testing, Counseling for Individuals at Risk for Acute Hepatic Porphyrias
Porphyrias, a group of eight known blood disorders, affect the body's molecular machinery for making heme, which is a component of the oxygen-transporting protein, hemoglobin.
Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias.
Goldberg, Drugs and the acute porphyrias, Elservier North-Holland Biomedical Press 1981.
The acute porphyrias (acute intermittent porphyria [AIP], HCP, and variegate porphyria generally are hepatic in origin with neuropsychiatrie and neurovisceral symptoms.
In AIP and other acute porphyrias, urine that is light in color on voiding may darken when exposed to light and air due to polymerization of colorless PBG to uroporphyrin and porphobilin.
The porphyrias are a group of inherited metabolic disorders that are associated with a specific enzymatic abnormality in the haem biosynthesis pathway.
INTRODUCTION: Porphyrias are a group of inherited disorders and are caused due to defective enzymes in heme biosynthetic pathway.
Acute porphyrias are rare diseases with varying incidences worldwide.
Thus laboratory testing based on the definite pattern of accumulation and hyper-excretion of porphyrins and porphyrin precursor is most effective for diagnosis and typing of porphyrias.
Porphyrias are a clinically and genetically heterogeneous group of metabolic diseases that result from either an inherited or an acquired dysfunction of enzymes crucial for heme biosynthesis.