2022 ICD-10-CM Codes for Other disorders of carbohydrate metabolism (E74)

Clinical Terms for Other disorders of carbohydrate metabolism (E74)

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.

von Gierke Disease-. 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.

Pompe Disease-. 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.

Cori Disease-. 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.

McArdle Disease-. Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise.

Fructose Intolerance-. An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC activity, resulting in accumulation of fructose-1-phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet.

Fructose Metabolism, Inborn Errors-. Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes test.

Galactosemias-. A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts.

Sucrase-Isomaltase Complex-. An enzyme complex found in the brush border membranes of the small intestine. It is believed to be an enzyme complex with different catalytic sites. Its absence is manifested by an inherited disease called sucrase-isomaltase deficiency.

Instructional Notations

Type 1 Excludes 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.

    • ICD-10 Index

      • Endocrine, nutritional and metabolic diseases (E00–E90)

        • Metabolic disorders (E70-E88)

            • Other disorders of carbohydrate metabolism (E74)
            • E74 - Other disorders of carbohydrate metabolism NON-BILLABLE CODE
            • E74.0 - Glycogen storage disease NON-BILLABLE CODE
            • E74.00 - Glycogen storage disease, unspecified BILLABLE CODE
            • E74.01 - von Gierke disease BILLABLE CODE
            • E74.02 - Pompe disease BILLABLE CODE
            • E74.03 - Cori disease BILLABLE CODE
            • E74.04 - McArdle disease BILLABLE CODE
            • E74.09 - Other glycogen storage disease BILLABLE CODE
            • E74.1 - Disorders of fructose metabolism NON-BILLABLE CODE
            • E74.10 - Disorder of fructose metabolism, unspecified BILLABLE CODE
            • E74.11 - Essential fructosuria BILLABLE CODE
            • E74.12 - Hereditary fructose intolerance BILLABLE CODE
            • E74.19 - Other disorders of fructose metabolism BILLABLE CODE
            • E74.2 - Disorders of galactose metabolism NON-BILLABLE CODE
            • E74.20 - Disorders of galactose metabolism, unspecified BILLABLE CODE
            • E74.21 - Galactosemia BILLABLE CODE
            • E74.29 - Other disorders of galactose metabolism BILLABLE CODE
            • E74.3 - Other disorders of intestinal carbohydrate absorption NON-BILLABLE CODE
            • E74.31 - Sucrase-isomaltase deficiency BILLABLE CODE
            • E74.39 - Other disorders of intestinal carbohydrate absorption BILLABLE CODE
            • E74.4 - Disorders of pyruvate metabolism and gluconeogenesis BILLABLE CODE
            • E74.8 - Other specified disorders of carbohydrate metabolism NON-BILLABLE CODE
            • E74.81 - Disorders of glucose transport, not elsewhere classified NON-BILLABLE CODE
            • E74.810 - Glucose transporter protein type 1 deficiency BILLABLE CODE
            • E74.818 - Other disorders of glucose transport BILLABLE CODE
            • E74.819 - Disorders of glucose transport, unspecified BILLABLE CODE
            • E74.89 - Other specified disorders of carbohydrate metabolism BILLABLE CODE
            • E74.9 - Disorder of carbohydrate metabolism, unspecified BILLABLE CODE