Email

info@enerca.org

 

Author: adm-enerca

ENERCA  >  Articles posted by adm-enerca (Page 2)

Pyrimidine 5 nucleotidase deficiency

Acronym: P5'N-1 ORPHANET code: 35120 OMIM code: 266120 ICD-10 code: D55.3 Group: Red cell enzymopathies P5’N-1 is an enzyme involved in the catabolism of ribonucleic acid (RNA) from young RBCs (reticulocytes). P5’N-1 deficiency is an autosomal recessive disorder characterized by chronic haemolytic anaemia associated with prominent RBC basophilic stippling, which is very useful in diagnosing this enzyme deficiency. P5’N-1 deficiency is also implicated in the anaemia of lead poisoning and thalassaemia with basophilic stippling. What causes the...

Phosphoglycerate kinase deficiency

Acronym: PGK ORPHANET code: 713 OMIM code: 300653 ICD-10 code: D55.2 Group: Red cell enzymopathies PGK is a key enzyme of the glycolytic pathway, involved in the production of ATP (energy). The PGK gene coding for this enzyme is located on the X-chromosome. PGK deficiency is a cause of chronic haemolytic anaemia and myoglobinuria. What causes the disease and how common is it?This deficiency is very rare, and only 26 unrelated families have been reported so far.Since...

Phosphofructokinase deficiency

Acronym: PFK ORPHANET code: 371 OMIM code: 610681 ICD-10 code: E74.0 Group: Red cell enzymopathies PFK is a key regulatory enzyme in glycolysis. PFK deficiency is a genetic disorder that interferes with the ability of muscles to use carbohydrates (such as glucose) for energy. It is also known as Tarui's Disease. This enzymopathy has a autosomal recessive hereditary transmission. What causes the disease and how common is it?This is a genetic disease. It is linked to mutations...

Pearson’s Syndrome

ORPHANET code: 699 OMIM code: 557000 ICD-10 code: D64.0 Group: Rare iron metabolism related anemias Subgroup: Syndromic sideroblastic anaemias What causes the disease and how common is it?Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. It is caused by a deletion in mitochondrial DNA Pearson Syndrome is classified as a mitochondrial disease because it consists of several overlapping syndromes that are caused by mutations of mitochondrial DNA. Specifically, Pearson Syndrome...

Paroxysmal nocturnal hemoglobinuria

Acronym: PNH Synonym(s): Marchiafava-Micheli Disease ORPHANET code: 447 OMIM code: 300818 ICD-10 code: D59.5 Group: Acquired hemolytic anemia What causes the disease and how common is it?Paroxysmal nocturnal hemoglobinuria (PNH), previously Marchiafava–Micheli syndrome, is a very rare (< 1/1,000,000), acquired, life-threatening disease of the blood characterized by destruction of red blood cells by the complement system, a part of the body's intrinsic immune system. This destructive process is a result of a defect in the formation of...

Other types of congenitale dyserythropoetic Anemia

Acronym: CDA ORPHANET code: 85, 98869, 98873, 98870 OMIM code: 224120, 224100, 105600 ICD-10 code: D64.4 Group: Erythropoietic defects Subgroup: Congenital dyserythropoietic anemia Other types of congenitale dyserythropoetic Anemia. What causes the disease and how common is it?This is a genetic disease, with single families in many countries.What are the most frequent symptoms if I have the disease?Less normal red cells are produced, and in some cases in addition the life span of the red cells, which is...

Lecithin cholesterol acyltransferase deficiency

Acronym: LCAT ORPHANET code: 650 OMIM code: 136120, 245900 ICD-10 code: E78.6 Group: Congenital Red Cell Membrane defects What causes the disease and how common is it?Lecithin Cholesterol Acyl Transferase (LCAT) is the enzyme that allows the maturation of HDL by esterification of free cholesterol to HDL. Cholesterol effluxes from cells as free cholesterol and is transported as mature HDL.Familial LCAT deficiency does not allow for HDL maturation resulting in its rapid catabolism of circulating apoA-1...

Iron – refractory iron deficiency Anemia

Acronym: IRIDA ORPHANET code: 209981 OMIM code: 206200 ICD-10 code: D50.8 Group: Rare iron metabolism related anemias Subgroup: Non sideroblastic anaemia Matriptase-2 is a serine protease encoded by TMPRSS6 gene, whose function is important for intestinal iron absorption. Deficiency of TMRRSS6 is an autosomal recessive disorder called iron refractory iron deficiency anemia (IRIDA). What causes the disease and how common is it?This is a rare genetic disease, linked to mutations of the TMPRSS6 gene, encoding the serine protease...

Imerslund-Gräsbeck-Syndrom

ORPHANET code: 35858 OMIM code: 261100, 602997 ICD-10 code: D51.1 Group: Erythropoietic defects Subgroup: Congenital megaloblastic anemia What causes the disease and how common is it?Cobalamin (Vitamin B12) isvery important for bone marrow functioning and its deficiency is a cause of anaemia. Vitamin B12 has two forms, one of which, along with folate, is important in DNA synthesis.Imerslund–Gräsbeck syndrome(IGS) is aautosomal recessive megaloblastic anemia (MGA1)due to congenital cobalamin malabsorption with vitamin B12 deficiency caused by malfunction...