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G6PD Deficiency
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency of red cells. It is mostly asymptomatic but manifests with...
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Copper Deficiency Anemia
Deficiency of trace elements is rare but they are the important cause of anemia. For proper management, these need to be identified early. There has...
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Radial Deficiency
Radial longitudinal deficiency (RLD) is a congenital disorder characterized by hypoplasia of both the radius and soft tissue structures on the...
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Trehalase Deficiency
Trehalose is a nonreducing disaccharide extracted from insect larvae called “trehala manna” by Berthelot in 1858 and named trehalose. Trehalose is...
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Arginase Deficiency
Arginase deficiency is caused by biallelic pathogenic variants of ARG1 gene. Arginase 1 deficiency results in hepatic accumulation of intracellular...
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Iron Deficiency Anemia
Iron deficiency anemia (IDA) is a common but complex condition which poses challenges in diagnosis. For effective management, it is important to...
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T2 Deficiency
T2 deficiency is an inherited genetic defect induced by a mutation of the acetoacetyl-CoA thiolase (ACAT1) gene (Fukao et al. 2019). The metabolism...
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Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin (AAT) deficiency is a common monogenic disorder in which there is a strong founder effect of a single missense mutation in...
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Glycerate Kinase Deficiency
D-glycerate kinase deficiency (DGKD) is an inborn error of metabolism (IEM) in serine and fructose catabolism, characterized by isolated elevation of...
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Thrombosis-related characteristics of pregnant women with antithrombin deficiency, protein C deficiency and protein S deficiency in Japan
BackgroundWe previously conducted a primary survey of pregnant women with hereditary thrombophilia based on national surveillance in Japan, but did...
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Diet for Iron Deficiency Metabolism - Bioavailability - Diagnostics
Around a quarter of the world's population is affected by iron deficiency, and women of childbearing age as well as children and adolescents are...
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Carnitine Palmitoyltransferase Deficiency
Deficiencies of carnitine palmitoyltransferases (CPT) 1 and 2 are inborn errors of carnitine metabolism. CPT1 and CPT2 are integral components of the...
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Arginine vasopressin deficiency: diagnosis, management and the relevance of oxytocin deficiency
Polyuria–polydipsia syndrome can be caused by central diabetes insipidus, nephrogenic diabetes insipidus or primary polydipsia. To avoid confusion...
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Anaemia and Iron Deficiency
Anaemia refers to a decrease in red blood cell numbers with an implication of decrease in quantity of haemoglobin. This is generally related to...
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Dihydropyramidinase Deficiency (DPYSD)
Dihydropyramidinase deficiency (DPYSD) is a rare autosomal recessive disease with pyrimidine metabolism disorder characterized by...
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Anemia and Iron Deficiency
In this chapter, the ten most important symptoms indicating iron deficiency and anaemia are presented and the individual risk groups for iron...
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D-Bifunctional Protein Deficiency
D-bifunctional protein (DBP) deficiency is a genetic defect with severe outcomes caused by a mutation in the HSD17B4 gene (Waterham et al. 2016). The...
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Multiple Sulfatase Deficiency (MSD)
Multiple sulfatase deficiency (MSD) is a rare lysosomal storage disorder caused by the pathogenic variants in the SUMF1 gene. The SUMF1 gene encodes...
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Effect of Iron Polymaltose Complex Prophylaxis on Frequency of Iron Deficiency and Iron Deficiency Anemia
ObjectivesTo evaluate the effectiveness of national iron prophylaxis policy in 9–12 mo-old infants in Turkey.
MethodsThis study was planned as a...
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Phosphoglycerate Kinase 1 Deficiency
PGK-1 deficiency is a rare disorder emerging when the PGK-1 gene does not function normally (Beutler 2007). The exact prevalence still remains...