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Test ID: OLIGU Oligosaccharide Screen, Urine

Useful For

Screening for possible oligosaccharidoses

Method Name

Matrix-Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS)

Reporting Name

Oligosaccharide Screen, U

Specimen Type

Urine


Specimen Required


Collection Container/Tube: Plastic, 10-mL urine tube (T068)

Specimen Volume: 8 mL

Pediatric: 2 mL

Collection Instructions:

1. Collect a random urine specimen.

2. No preservative.

3. Immediately freeze specimen.

Additional Information:

1. Patient’s age is required.

2. Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information.


Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time
Urine Frozen (preferred) 365 days
  Refrigerated  15 days
  Ambient  7 days

Clinical Information

The oligosaccharidoses (glycoproteinoses) are a subset of lysosomal storage disorders caused by the deficiency of any one of the lysosomal enzymes involved in the degradation of complex oligosaccharide chains. They are characterized by the abnormal accumulation of incompletely degraded oligosaccharides in cells and tissues and the corresponding increase of related free oligosaccharides in the urine. Clinical diagnosis is difficult due to the similarity of clinical features across disorders and their variability. Clinical features can include bone abnormalities, coarse facial features, corneal cloudiness, organomegaly, muscle weakness, hypotonia, developmental delay, and ataxia. Age of onset ranges from early infancy to adult and can even present prenatally. Since clinical features can overlap, urine screening is an important tool for the initial workup of a suspected oligosaccharidosis.

 

Included in this subset of lysosomal storage disorders and detected by this assay are alpha-mannosidosis, aspartylglucosaminuria, fucosidosis, Schindler disease, GM1 gangliosidosis, Sandhoff disease, sialidosis, galactosialidosis, mucolipidoses types II and III, and Pompe disease.

 

Conditions Identifiable By Method

Disorder

Onset

Gene

Enzyme Deficiency

Worldwide Incidence

Alpha-mannosidosis

Prenatal (Type III) Infancy (Type I)          Juvenile/Adult (Type II)

MAN2B1

Alpha-mannosidase

1:500,000

Phenotype: continuum of clinical features ranging from severe and rapidly progressive disease to a milder and more slowly progressive course. Prenatal onset (Type III) manifests as prenatal loss or early death from progressive neurodegeneration. Infantile onset (Type I) is characterized by rapidly progressive mental retardation, hepatosplenomegaly, and severe dysostosis multiplex. Type II is milder and slower progressing with survival into adulthood.

Aspartylglucosa-minuria

Early childhood

AGA

Aspartylglucosaminidase

1:2,000,000 higher incidence in Finland approx 1:17,000

Phenotype: normal appearing at birth followed by progressive neurodegeneration at 2-4 years, frequent respiratory infections, coarse features, thick calvarium, and osteoporosis. Slowly progressive mental decline into adulthood.

Alpha-fucosidosis

Infancy to early childhood

FUCA1

Alpha-fucosidase

<100 patients described

Phenotype: continuum within a wide spectrum of severity; clinical features include neurodegeneration, coarse facial features, growth delay, recurrent infections, dysostosis multiplex, angiokeratoma, and elevated sweat chloride

Schindler disease

Infancy (Type I)Early childhood (Type III)

Adult (Type II)

NAGA

Alpha-N-Acetyl-galactosaminidase

<30 patients described

Phenotype: continuum of clinical features ranging from severe and rapidly progressive disease to a milder and more slowly progressive course; infantile onset (Type I) is characterized by rapidly progressive neurodegeneration. Type II is adult onset characterized by angiokeratoma and mild cognitive impairment, and Type III is an intermediate and variable form ranging from seizures and psychomotor delay to milder autistic features.

GM1 gangliosidosis

Infancy (Type I)

Late infantile/juvenile (Type II)

Adult (Type III)

GLB1

Beta-galactosidase (Beta-Gal)

1:200,000

Phenotype: continuum of clinical features ranging from severe and rapidly progressive disease to a milder and more slowly progressive course; infantile onset (Type I) is characterized by early developmental delay/arrest followed by progressive neurodegeneration, skeletal dysplasia, facial coarseness, hepatosplenomegaly, and macular cherry red spot. Later onset forms (Types II and III) are milder and observed as progressive neurologic disease and vertebral dysplasia. Adult onset presents mainly with dystonia.

GM2 gangliosidosis variant 0

(Sandhoff disease)

Early infancy to juvenile or adult

HEXB

Beta-hexosaminidase A and B

1:400,000

Phenotype: infantile onset is characterized by rapidly progressive neurodegeneration, exaggerated startle reflex, “cherry red spot.” Milder later-adult onset forms of the disease exist presenting with neurological problems such as ataxia, dystonia, spinal-cerebellar degeneration, and behavior changes.

Sialidosis (ML I)

Early adulthood (Type I)

Earlier for congenital, infantile, and juvenile forms (Type II)

NEU1

Alpha-neuraminidase (Neu)

<30 patients described

Phenotype: continuum of clinical features ranging from severe disease (Type II) to a milder and more slowly progressive course (Type I). Clinical features range from early developmental delay, coarse facial features, short stature, dysostosis multiplex, and hepatosplenomegaly to late onset cherry-red spot myoclonus syndrome. Seizures, hyperreflexia, and ataxia have been reported in more than 50% of later onset patients. A congenital form of the disease has been reported in which patients present with fetal hydrops or neonatal ascites.

Galactosialidosis

Early infancy, late infancy or early adult

CTSA

Cathepsin A causing secondary deficiencies in Beta-Gal and Neu

<30 patients described

Phenotype: continuum of clinical features ranging from severe and rapidly progressive disease to a milder and more slowly progressive course; clinical features of the early infantile type include fetal hydrops, edema, ascites, visceromegaly, dysostosis multiplex, coarse facies, and cherry red spot. The majority of patients have milder presentations, which include ataxia, myoclonus, angiokeratoma, cognitive and neurologic decline.

Mucolipidosis II-alpha/-beta (I-Cell)

Mucolipidosis III-alpha/-beta and III-gamma (Pseudo-Hurler Polydystrophy)

Early infancy

 

Early childhood, may live well into adulthood 

GNPTAB(alpha/beta)

GNPTG (gamma)

N-acetylglucosaminyl-1-phosphotransferase deficiency causing secondary intracellular deficiency of multiple enzyme activities

1:300,000

Phenotype: I-cell resembles Hurler with short stature and skeletal anomalies, but presents earlier, is more severe, and can include cardiomyopathy and coronary artery disease. Pseudo-Hurler polydystrophy is milder and later presenting.

Pompe disease (Glycogen storage disease Type II)

Early infancy

Late onset (childhood-adult)

GAA

Alpha-glucosidase

1:40,000

Phenotype: infantile onset is characterized by prominent cardiomegaly, hepatomegaly, hypotonia, and weakness. Later onset forms present with proximal muscle weakness and respiratory insufficiency.

 

Reference Values

An interpretive report will be provided.

Interpretation

This is a screening test; not all oligosaccharidoses are detected. The resulting excretion profile may be characteristic of a specific disorder; however, abnormal results require confirmation by enzyme assay or molecular genetic testing.

 

When abnormal results are detected with characteristic patterns, a detailed interpretation is given, including an overview of results and significance, a correlation to available clinical information, elements of differential diagnosis, recommendations for additional confirmatory studies (enzyme assay, molecular genetic analysis).

Clinical Reference

1. Scriver's The Online Metabolic and Molecular Bases of Inherited Disease (OMMBID). Part 16 Lysosomal Disorders. Accessed December 29, 2015. Available at: http://ommbid.mhmedical.com/book.aspx?bookid=971

2. Enns GM, Steiner RD, Cowan TM: Lysosomal Disorders. In Pediatric Endocrinology and Inborn Errors of Metabolism. Edited by K Sarafoglou, GF Hoffmann, KS Roth. McGraw Hill Medical, 2009

Day(s) and Time(s) Performed

Varies

Analytic Time

8 days

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

84377

LOINC Code Information

Test ID Test Order Name Order LOINC Value
OLIGU Oligosaccharide Screen, U 49284-3

 

Result ID Test Result Name Result LOINC Value
64889 Oligosaccharide Screen, U 49284-3

Testing Algorithm

See Newborn Screen Follow-up for Pompe Disease in Special Instructions.

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-biochemical