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Enzyme Deficiency

Known as: deficiencies enzyme, deficiencies enzymes, Specific Enzyme Deficiency 
A finding in which there is a subnormal amount of an enzyme. Enzymes are proteins that are necessary in certain catabolic processes.
National Institutes of Health

Related topics

Related topics

49 relations
3-methylcrotonyl CoA carboxylase 1 deficiency5,10-Methylenetetrahydrofolate reductase deficiencyArgininosuccinic AciduriaCarnitine palmitoyl transferase 1A deficiency

Narrower (32)

AROMATASE EXCESS SYNDROMEAngioedemas, HereditaryCarbamoyl-Phosphate Synthase I Deficiency DiseaseCitrullinemia

Broader (1)

Disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2004
2004
Partial correction of the α‐galactosidase A deficiency and reduction of glycolipid storage in Fabry mice using synthetic vectors
Fabry disease is a recessive, X‐linked disorder caused by a deficiency of the lysosomal enzyme α‐galactosidase A, leading to an… 
1983
1983
Red cell enzyme deficiencies as non-disease.
Many red cell enzyme defects have been discovered, many of them in patients with hemolytic anemia. In some cases a cause-and… 
1982
1982
Hereditary plasma lecithin-cholesterol acyl transferase deficiency: a heterozygous variant with erythrocyte membrane abnormalities.
LCAT esterifies cholesterol to cholesterol ester. This study describes a family with plasma LCAT deficiency with a heterozygous… 
1979
1979
Genetic heterogeneity of "normal" human erythrocyte glucose-6-phosphate dehydrogenase: an isoelectrophoretic polymorphism.
Quantitative determination of glucose-6-phosphate dehydrogenase (G6PD; D-glucose-6-phosphate: NADP+ 1-oxidoreductase, EC 1.1.1.49… 
1979
1979
Bone marrow transplantation for correction of enzyme deficiency disease.
Mutant acatalasemic mice provide a prototype of congenital enzyme deficiency disease. Normal blood catalase levels were achieved… 
Review
1978
Review
1978
Ecto 5'-nucleotidase deficiency in primary hypogammaglobulinaemia.
The activity of the lymphocyte ectoenzyme 5'-nucleotidase is very low in the majority of patients with primary 'common variable… 
1976
1976
Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis.
Complementation of beta hexosaminidase A (hex A) deficiency was obtained by Sendai virus-mediated somatic cell hybridization of… 
Review
1975
Review
1975
Diet and intestinal enzyme adaptation: implications for gastrointestinal disorders.
Recent studies have demonstrated that the human intestinal enzymes of carbohydrate digestion and metabolism can be regulated by… 
1970
1970
Diagnosis of erythrocyte glucose-6-phosphate dehydrogenase deficiency in the negro male despite hemolytic crisis.
A simple procedure for the diagnosis of erythrocyte glucose-6-phosphate dehydrogenase deficiency in Negro males experiencing… 
1968
1968
Liver Glycogen Accumulation in Unstable Diabetes
Two patients who had severe unstable diabetes mellitus with frequent hypoglycemic episodes and who required soluble insulin for…