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Biochemical Genetic Services
Inborn errors of metabolism (IEMs) individually are rare but collectively, common disorders. An understanding of the broad clinical manifestations of IEMs provides the basis for knowing when to consider the diagnosis. Most important in making the diagnosis is a high index of suspicion. Successful emergency treatment depends on prompt institution of therapy aimed at metabolic stabilization.

Single gene defects result in abnormalities in the synthesis or catabolism of proteins, carbohydrates or fats. Most of them are due to defect in an enzyme or transport protein, which results in block in the metabolic pathway. Effects are due to toxic accumulations of substrates before the block, intermediates from alternative metabolic pathways, and/or defects in energy production and utilization caused by a deficiency of products beyond the block. Nearly every metabolic disease has several forms that vary in age of onset, clinical severity and, mode of inheritance.

Cases with developmental delay, onset of symptoms with change in diet and unusual dietary preferences, particularly protein or carbohydrate aversion, unexplained neonatal or sudden infant deaths in the family, seizures, failures to thrive, hepatosplenomegaly can be screened for metabolic defects.

List of investigations done
1 Metabolic screening with TLC amino acids Urine (10 ml)
2 Thin layer chromatography (TLC) for amino acids Urine (10 ml)
3 Thin layer chromatography for oligosaccharides Urine (10 ml)
4 Thin layer chromatography for carbohydrates Urine (10 ml)
5 Paper chromatography for Alkaptonuria Urine (10 ml)
6 Galactosemia Panel (Urine Galactose, Blood Galactose, Galactose 1 phosphate uridyl transferase) Urine (10 ml), EDTA blood 2ml
7 Biotinidase assay EDTA blood 2ml
AMINO ACID DISORDERS
8 HPLC for amino acids EDTA blood 2ml
9 HPLC for sulphur amino acids (Homocysteine &others) EDTA blood 2ml
MUCOPOLYSACCHARIDOSIS
10 Spot test and Cellulose acetate electrophoresis for Mucopolysaccharidosis Urine (10 ml)
11 Hurler syndrome - MPS I (Iduronidase) EDTA blood 5 ml
12 Hunter syndrome - MPS II (Iduronate 2-sulfatase) EDTA blood 5 ml
13 Sanfillipo disease-MPS III A EDTA blood 5 ml
14 Sanfillipo disease-MPS III B EDTA blood 5 ml
15 Sanfillipo disease-MPS III C EDTA blood 5 ml
16 Sanfillipo disease-MPS III D EDTA blood 5 ml
17 Morquio Syndrome Type A- MPS IV A EDTA blood 5 ml
18 Morquio Syndrome Type B- MPS IV B EDTA blood 5 ml
19 Maroteaux-Lamy syndrome MPS VI (Aryl sulfatase B) EDTA blood 5 ml
20 Sly disease MPS VII (Beta-glucuronidase) EDTA blood 5 ml
LYSOSOMAL STORAGE DISORDERS
21 Fabry disease (Alpha-Galactosidase) EDTA blood 5 ml
22 GM1 Gangliosidosis (Beta Galactosidase) EDTA blood 5 ml
23 Pompe Disease (Alpha-Glucosidase) EDTA blood 5 ml
24 Gaucher disease (Beta-Glucosidase) EDTA blood 5 ml
25 Tay Sachs Disease (Hexosaminidase A) EDTA blood 5 ml
26 Sandhoff Disease (Hexosaminidase A and B) EDTA blood 5 ml
27 Metachromatic Leukodystrophy (Aryl sulphatase A) EDTA blood 5 ml
28 Alpha-Mannosidosis type I/II (Alpha Mannosidase) EDTA blood 5 ml
29 Neuronal ceroid Lipofuscinosis Type 1 EDTA blood 5 ml
30 Neuronal ceroid Lipofuscinosis Type 2 EDTA blood 5 ml
31 Krabbe disease (Beta Galactocerebrosidase) EDTA blood 5 ml
32 Niemann Pick disease A and B (Sphingomyelinase) EDTA blood 5 ml
33 Sialidosis (Neuraminidase) Skin fibroblasts
34 Fucosidosis (Fucosidase) EDTA blood 5 ml
35 Prenatal Diagnosis for LSD (Enzyme assay) Amniotic fluid/ CVS

Kindly contact us before sending any samples (Sample acceptance policy)
Contact Information
Email: adalal<at>cdfd.org.in
Phone: +91-40-24749335
Fax: +91-40-24749338
Last updated on: Friday, 17th August, 2012.

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