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Medical Conditions - Enzyme Deficiency

Enzyme deficiency causes harmful chemicals to build up in the body, disrupting normal organ activities and causing failure to produce essential biological compounds and intermediates. Common symptoms of enzyme deficiency are; abdominal pain, cramps, bloating, nausea, diarrhea, unusual weight loss, altered bowel movements, etc.

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Pseudocholinesterase Deficiency - An Overview

Pseudocholinesterase deficiency is a rare, genetic, or acquired condition that alters the activity of the plasma enzyme pseudocholinesterase.

4 min readNovember 11, 2022

TRNT1 Deficiency

TRNT1 enzyme deficiency can lead to a group of disorders known as SIFD-sideroblastic anemia, immunodeficiency, fevers, and developmental disorders.

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Enzyme Deficiency - An Overview

Enzyme deficiencies disrupt vital metabolic processes, leading to a range of debilitating symptoms and conditions.

4 min readJune 9, 2023

Enzymatic Defects - Causes, Consequences, and Therapeutic Insights

Enzymatic defects are diseases or abnormalities which occur due to a result of lack or defect in any enzyme. To know more read the article below.

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Gamma-Glutamylcysteine Synthetase Deficiency

γ-glutamylcysteine synthetase deficiency is a genetic disorder that causes anemia. Refer to this article for a detailed description.

4 min readOctober 20, 2023

Acatalasemia - A Journey to Discovering Rare Diseases

Acatalasemia is a rare autosomal recessive disorder that is poorly understood and is caused due to a deficiency of the enzyme: catalase.

4 min readMay 17, 2023

Trifunctional Enzyme Deficiency: An Overview

Trifunctional enzyme deficiency is a condition in which the body cannot break down certain fats. Read this article to know about it.

5 min readDecember 6, 2022