Other disorders of carbohydrate metabolism (E74)
Clinical Information
Fanconi Syndrome - A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without primary involvement of the KIDNEY GLOMERULUS. It is usually characterized by the tubular wasting of nutrients and salts (GLUCOSE; AMINO ACIDS; PHOSPHATES; and BICARBONATES) resulting in HYPOKALEMIA; ACIDOSIS; HYPERCALCIURIA; and PROTEINURIA.
Glycogen Storage Disease - A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.
Glycogen Storage Disease Type I - An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.
Glycogen Storage Disease Type II - An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)
Glycogen Storage Disease Type IIb - An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2.
Glycogen Storage Disease Type III - An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.
Glycogen Storage Disease Type IV - An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.
Glycogen Storage Disease Type V - Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise.
Glycogen Storage Disease Type VI - A hepatic GLYCOGEN STORAGE DISEASE in which there is an apparent deficiency of hepatic phosphorylase (GLYCOGEN PHOSPHORYLASE, LIVER FORM) activity.
Glycogen Storage Disease Type VII - An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.
Glycogen Storage Disease Type VIII - An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon.
Glycosuria - The appearance of an abnormally large amount of GLUCOSE in the urine, such as more than 500 mg/day in adults. It can be due to HYPERGLYCEMIA or genetic defects in renal reabsorption (RENAL GLYCOSURIA).
Glycosuria, Renal - An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene.
Instructional Notations
Type 1 Excludes
A type 1 excludes note is a pure excludes note. It means "NOT CODED HERE!" An Excludes1 note indicates that the code excluded should never be used at the same time as the code above the Excludes1 note. An Excludes1 is used when two conditions cannot occur together, such as a congenital form versus an acquired form of the same condition.
- diabetes mellitus E08 E13
- hypoglycemia NOS E16.2
- increased secretion of glucagon E16.3
- mucopolysaccharidosis E76.0 E76.3
Endocrine, nutritional and metabolic diseases (E00–E89)
Metabolic disorders (E70-E88)
E74 Other disorders of carbohydrate metabolism
E74.0 Glycogen storage disease
- E74.00 Glycogen storage disease, unspecified
- E74.01 von Gierke disease
- E74.02 Pompe disease
- E74.03 Cori disease
- E74.04 McArdle disease
- E74.05 Lysosome-associated membrane protein 2 [LAMP2] deficiency NEW CODE
- E74.09 Other glycogen storage disease
E74.1 Disorders of fructose metabolism
- E74.10 Disorder of fructose metabolism, unspecified
- E74.11 Essential fructosuria
- E74.12 Hereditary fructose intolerance
- E74.19 Other disorders of fructose metabolism
E74.2 Disorders of galactose metabolism
- E74.20 Disorders of galactose metabolism, unspecified
- E74.21 Galactosemia
- E74.29 Other disorders of galactose metabolism
E74.3 Other disorders of intestinal carbohydrate absorption
- E74.31 Sucrase-isomaltase deficiency
- E74.39 Other disorders of intestinal carbohydrate absorption
- E74.4 Disorders of pyruvate metabolism and gluconeogenesis
E74.8 Other specified disorders of carbohydrate metabolism
E74.81 Disorders of glucose transport, not elsewhere classified
- E74.810 Glucose transporter protein type 1 deficiency
- E74.818 Other disorders of glucose transport
- E74.819 Disorders of glucose transport, unspecified
- E74.89 Other specified disorders of carbohydrate metabolism
- E74.9 Disorder of carbohydrate metabolism, unspecified
Other disorders of carbohydrate metabolism (E74)