Phosphoenolpyruvate carboxykinase deficiency impairs gluconeogenesis and results in symptoms and signs similar to the hepatic forms of glycogen storage disease but without hepatic glycogen accumulation.
Other deficiencies include those of glycolytic enzymes or enzymes in the pentose phosphate pathway. Common examples are pyruvate kinase deficiency (see Glycolytic Pathway Defects Glycolytic Pathway Defects Glycolytic pathway defects are autosomal recessive red blood cell metabolic disorders that cause hemolytic anemia. (See also Overview of Hemolytic Anemia.) The glycolytic pathway is one of the... read more ) and glucose-6-phosphate dehydrogenase (G6PD) deficiency Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked enzymatic defect common in blacks, which can result in hemolysis after acute illnesses or intake of oxidant drugs (including... read more , both of which may result in hemolytic anemia. Wernicke-Korsakoff syndrome Symptoms and Signs Thiamin deficiency (causing beriberi) is most common among people subsisting on white rice or highly refined carbohydrates in developing countries and among alcoholics. Symptoms include diffuse... read more is caused by a partial deficiency of transketolase, which is an enzyme for the pentose phosphate pathway that requires thiamin as a cofactor.
See Overview of Carbohydrate Metabolism Disorders Overview of Carbohydrate Metabolism Disorders Carbohydrate metabolism disorders are errors of metabolism that affect the catabolism and anabolism of carbohydrates. The inability to effectively use metabolites of carbohydrates accounts for... read more . See also table Glycogen Storage Diseases and Disorders of Gluconeogenesis Glycogen Storage Diseases and Disorders of Gluconeogenesis Glycogen storage diseases are carbohydrate metabolism disorders. There are many numbered and named types, all of which are caused by deficiencies of enzymes involved in glycogen synthesis or... read more .
See also Approach to the Patient With a Suspected Inherited Disorder of Metabolism Approach to the Patient With a Suspected Inherited Disorder of Metabolism Most inherited disorders of metabolism (inborn errors of metabolism) are rare, and therefore their diagnosis requires a high index of suspicion. Timely diagnosis leads to early treatment and... read more .
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Online Mendelian Inheritance in Man® (OMIM®) database: Complete gene, molecular, and chromosomal location information