Carbohydrates and glycogen |
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Total galactose test (P); Total fructose test (P); |
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Galactosemia |
Total glycogen test and glycogen structure assay (P)22 Hommes FA. Techniques in Diagnostic Human Biochemical Genetics. New York, NY: Wiley-Liss John Wiley & son; 1991.,33 Blau N, Duran M, Gibson KM. Laboratory Guide to the Methods in Biochemical Genetics. Heidelberg, Germany: Springer-Verlag Berlin; 2008.
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Hereditary fructose intolerance |
Enzyme assays33 Blau N, Duran M, Gibson KM. Laboratory Guide to the Methods in Biochemical Genetics. Heidelberg, Germany: Springer-Verlag Berlin; 2008.
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Glycogenosis type Ia, II, IV, V, VI, VII, and IX |
Galactose-1-phosphate, UDP-galactose-4-epimerase (P); fructose-bisphosphate aldolase, fructose-1,6-bisphosphatase (P); glucose-6-phosphatase (P); α-glucosidase (P); 1.4-α-glucan branching enzyme (P); phosphorylase (P); 6-hosphofructokinase (P); phosphorylase b-kinase (P) |
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Pyruvate and ketone bodies |
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Total Lactate, Pyruvate, and Ketone bodies tests (P)22 Hommes FA. Techniques in Diagnostic Human Biochemical Genetics. New York, NY: Wiley-Liss John Wiley & son; 1991.,33 Blau N, Duran M, Gibson KM. Laboratory Guide to the Methods in Biochemical Genetics. Heidelberg, Germany: Springer-Verlag Berlin; 2008.
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Pyruvate metabolism defects |
Porphyrins |
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Porphobilinogen test (P)22 Hommes FA. Techniques in Diagnostic Human Biochemical Genetics. New York, NY: Wiley-Liss John Wiley & son; 1991.,33 Blau N, Duran M, Gibson KM. Laboratory Guide to the Methods in Biochemical Genetics. Heidelberg, Germany: Springer-Verlag Berlin; 2008.
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Porphyrin metabolism defects |
Pterins |
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Dihydropteridine reductase assay (P)22 Hommes FA. Techniques in Diagnostic Human Biochemical Genetics. New York, NY: Wiley-Liss John Wiley & son; 1991.,33 Blau N, Duran M, Gibson KM. Laboratory Guide to the Methods in Biochemical Genetics. Heidelberg, Germany: Springer-Verlag Berlin; 2008.
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Pterin metabolism defects |
Purine |
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Bratton-Marshall reaction (P)2121 Laikind PK, Seegmiller JE, Gruber HE. Detection of 5’-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: identification of patients deficient in adenylosuccinate lyase activity. Anal Biochem. 1986;156(1):81-90.
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Purine metabolism defect |
Biotin |
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Biotinidase enzyme assay (P)22 Hommes FA. Techniques in Diagnostic Human Biochemical Genetics. New York, NY: Wiley-Liss John Wiley & son; 1991.,33 Blau N, Duran M, Gibson KM. Laboratory Guide to the Methods in Biochemical Genetics. Heidelberg, Germany: Springer-Verlag Berlin; 2008.
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Biotinidase Deficiency |
Lysosomal storage diseases (GAGs) |
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Total urinary glycosaminoglycans (GAGs; P); plasma and urine free and total sialic acid test (P)2,3,19,20
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Mucopolysaccharidoses (MPSs) Sialidosis, Galactosialidosis |
Lysosomal Enzyme assays22 Hommes FA. Techniques in Diagnostic Human Biochemical Genetics. New York, NY: Wiley-Liss John Wiley & son; 1991.,33 Blau N, Duran M, Gibson KM. Laboratory Guide to the Methods in Biochemical Genetics. Heidelberg, Germany: Springer-Verlag Berlin; 2008.,77 Chamoles NA, Blanco MB, Gaggioli D, Casentini C. Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper. Clin Chem. 2001;47(12):2098-2102.
8 Chamoles NA, Blanco M, Gaggioli D, Casentini C. Gaucher and Niemann-Pick diseases-enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. Clin Chim Acta. 2002;317(1-2):191-197.
9 Civallero G, Michelin K, deMari J, et al. Twelve different enzyme assays on dried-blood filter paper samples to detection of patients with selected inherited lysosomal storage diseases. Clin Chim Acta. 2006;372(1-2):98-102.
10 Camelier MV, Burin MG, De Mari J, Vieira TA, Marasca G, Giugliani R. Practical and reliable enzyme test for the detection of Mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples. Clin Chim Acta. 2011;412(19-20): 1805-1808.
11 Oemardien LF, Boer AM, Ruijter GJ, et al. Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots. Mol Genet Metab. 2011;102(1):44-48.
12 Tolun AA, Graham C, Shi Q, et al. A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots. Mol Genet Metab. 2012;105(3):519-521.
13 Ullal AJ, Millington DS, Bali DS. Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots. Mol Genet Metab Rep. 2014;22(1):461-464.
14 Hamilton J, Jones I, Srivastava R, Galloway P. A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2. Clin Chim Acta. 2012;413(15-16): 1207-1210.
15 Civallero G, De Mari J, Bittar C, Burin M, Giugliani R. Extended use of a selective inhibitor of acid lipase for the diagnosis of Wolman disease and cholesteryl ester storage disease. Gene. 2014;539(1):154-156.
16 Civallero G, De Mari J, Viapiana Camelier M, Burin M, Giugliani R. Assay of heparan-N-sulfamidase in dried leukocytes impregnated in filter paper: a new tool for the identification of mucopolysaccharidosis IIIA and potentially other lysosomal diseases. Mol Gen Metab. 2013;108(4):267-268.
17 Camelier M, Civallero G, De Mari J, Burin M, Giugliani R. Galactocerebrosidase assay on dried-leukocytes impregnated in filter paper for the detection of Krabbe disease. Clin Chim Acta. 2015;438:178-180.-1818 Camelier M, De Mari J, Burin M, Civallero G, Giugliani R. Extended use of dried-leukocytes impregnated in filter paper samples for detection of Pompe, Gaucher, and Morquio A diseases. Clin Chim Acta. 2015;446:218-220.,2222 Sista RA, Wang T, Wu N, et al. Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform. Clin Chim Acta. 2013;424:12-18.,2424 Vines DJ, Warburton MJ. Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I. FEBS Lett. 1999;443(2):131-135. β-galactosidose (F); β-glucosaminidase A (F); β-glucosaminidase A/ B (F); Arylsulfatase A (P); Galactocerebrosidase (F); α-galactosidose (F); β-glucosidase (F); Chitotriosidase (F); α-L-iduronidase (F); Iduro-2-sul-fatase (F); Heparan-N-sulfatase (F); α-N-acetylglucosaminidase (F); Acetyl CoA:α-glucosaminide-N-acetyltransferase (F); N-acetylglucosa-mine-6-sulfate (F); N-acetylgalactosamine-6-sulfate (F); Arylsulatase B (P); β-glucuronidase (F); α-L-fucosidase (F); α-Mannosidase (F); β-Man-nosidase (F); α-neuraminidase (F); Lipase (F); Ceramidase (F); α-N-acetylgalactosaminidase (F) |
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GM1 gangliosidoses; Mucolipidosis II/ III; B variant Tay-Sachs, B1 variant, Sandhoff disease; Metachromatic leukodystrophy; Multiple sulfatase Deficiency; Krabbe’s disease; Fabry’s disease; Gaucher’s disease; Niemann-Pick disease types A/B/C; MPS types I, II, III-A, III-B, III-C, III-D, IV-A, VI, VII; Fucosidosis; α-Mannosidase; β-Mannosidase; Sialidosis; Galactosialidosis; Wolman disease. Cholesterol ester storage disease; Farber disease; Shindler Disease |