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.* >  2008 ICD-9-CM Diagnosis 271.8
Other specified disorders of carbohydrate transport and metabolism On October 1, 2008 the 2009 ICD-9-CM codes came into effect. Therefore, this code may be out of date.
The 2009 version of ICD-9-CM 271.8 can be accessed here. - 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
- View the ICD-9-CM Volume 1 271.* hierarchy
271.8 also known as:- Essential benign pentosuria
- Fucosidosis
- Glycolic aciduria
- Hyperoxaluria (primary)
- Mannosidosis
- Oxalosis
- Xylosuria
- Xylulosuria
Index entries containing 271.8:- Absence (organ or part) (complete or partial)
- alpha-fucosidase
 271.8
- fucosidase 271.8
Aciduria 791.9- glycolic 271.8
Bird's disease (oxaluria) 271.8
Carbohydrate-deficient glycoprotein syndrome (CDGS) 271.8
CDGS (carbohydrate-deficient glycoprotein syndrome) 271.8
Deficiency, deficient- alpha-fucosidase 271.8
- alpha-mannosidase 271.8
- fucosidase 271.8
- mannosidase 271.8
- phosphoenolpyruvate carboxykinase 271.8
- phosphomannomutase 271.8
- phosphomannose isomerase 271.8
- phosphomannosyl mutase 271.8
- pyruvate carboxylase 271.8
- pyruvate dehydrogenase 271.8
Diathesis- oxalic 271.8
Disease, diseased - see also Syndrome- Bird's (oxaluria) 271.8
Disorder - see also Disease- congenital
- glycosylation (CDG) 271.8
- infant sialic acid storage 271.8
- metabolism NEC 277.9
- carbohydrate 271.9
- specified type NEC 271.8
- fucosidosis 271.8
- mannosidosis 271.8
- oxalosis 271.8
- pentosuria 271.8
- xylose 271.8
- transport, carbohydrate 271.9
- specified type NEC 271.8
Fucosidosis 271.8
Hyperoxaluria (primary) 271.8
L-xyloketosuria 271.8
Malabsorption 579.9- monosaccharide 271.8
Mannoheptulosuria 271.8
Mannosidosis 271.8
Oxalosis 271.8
Oxaluria 271.8
Pentosuria (benign) (essential) 271.8
Syndrome - see also Disease- carbohydrate-deficient glycoprotein (CDGS) 271.8
Xyloketosuria 271.8
Xylosuria 271.8
Xylulosuria 271.8
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