2008 ICD-9-CM Volume 1 Diagnosis Codes Home > Endocrine, Nutritional And Metabolic Diseases, And Immunity Disorders 240-279 > Other Metabolic Disorders And Immunity Disorders 270-279 >
 Disorders of carbohydrate transport and metabolism- 271 is a non-specific code that cannot be used to specify a diagnosis
Glycogenosis- 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.
- 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.
- An autosomal recessive metabolic disorder due to a deficiency in expression of branching enzyme (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.
- 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)
- Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise.
- 271.0 is a specific code that can be used to specify a diagnosis
- 271.0 contains 59 index entries
Galactosemia- 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 (OVARIAN FAILURE, PREMATURE); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)
- 271.1 is a specific code that can be used to specify a diagnosis
- 271.1 contains 6 index entries
Hereditary fructose intolerance- An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) 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.
- 271.2 is a specific code that can be used to specify a diagnosis
- 271.2 contains 13 index entries
Intestinal disaccharidase deficiencies and disaccharide malabsorption- The condition resulting from the absence or deficiency of LACTASE in the MUCOSA cells of the GASTROINTESTINAL TRACT, and the inability to break down LACTOSE in milk for ABSORPTION. Bacterial fermentation of the unabsorbed lactose leads to symptoms that range from a mild indigestion (DYSPEPSIA) to severe DIARRHEA. Lactose intolerance may be an inborn error or acquired.
- The inability to digest or absorb lactose, a type of sugar found in milk and other dairy products.
- 271.3 is a specific code that can be used to specify a diagnosis
- 271.3 contains 20 index entries
Renal glycosuria- Glycosuria occurring when there is only the normal amount of sugar in the blood, due to inherited inability of the renal tubules to reabsorb glucose completely. (Dorland, 27th ed)
- 271.4 is a specific code that can be used to specify a diagnosis
- 271.4 contains 2 index entries
Other specified disorders of carbohydrate transport and metabolism- An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS, GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)
- Diseases caused by the loss of one or more enzymes involved in the hydrolysis of mannoside linkages (MANNOSIDASES). The defects in enzyme activity are primarily associated with genetic mutation of the genes that codes for a particular mannosidase isoenzyme.
- Either of two genetic disorders characterized by urinary excretion of large amounts of oxalate, with nephrolithiasis, nephrocalcinosis, early onset of renal failure, and often a generalized deposit of calcium oxalate, resulting from a defect in glyoxylate metabolism.
- Excretion of an excessive amount of oxalate in the urine.
- Lysosome storage disease due to alpha-L-fucosidase (E.C. 3.2.1.51) deficiency in leukocytes manifested by abnormal accumulation in tissues and urinary excretion of partially catabolized oligosaccharides, glycoasparagines, and glycolipids with alpha-linked fucose at the nonreducing end of the glycogen chain. The phenotype is variable and may include delayed growth and mental development, progressive neurological deterioration, Hurler-like (mucopolysaccharidosis I-H) coarse facies, recurrent infections, visceromegaly, skeletal abnormalities, joint contractures, deafness, and angiokeratoma corporis diffusum. Several types are recognized by different researchers. The form exhibiting a longer survival, mild neurological manifestations, and angiokeratoma is sometimes referred to as fucosidosis type II. In a different scheme, three different types are recognized according to their age of onset. Types I and II are the most severe and have their onsets at 10 and 18 months, respectively with life expectancy of 6 years. Type III represents a juvenile form which is marked by a milder form of psychomotor retardation and a slower deterioration of neurological activities. Hurler-like (gargyloid) facies occur mainly in types I and II and is less commonly in type III.
- 271.8 is a specific code that can be used to specify a diagnosis
- 271.8 contains 40 index entries
Unspecified disorder of carbohydrate transport and metabolism- 271.9 is a specific code that can be used to specify a diagnosis
- 271.9 contains 6 index entries
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