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Dr. Ashwin Dalal
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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 and Sample required s
Serial No. TEST Sample Required
SCREENING TESTS  
1 Metabolic screening with TLC aminoacids 10 ml Urine
2 Thin layer chromatography (TLC) for amino acids (Plasma/urine/CSF)
3 Thin layer chromatography for oligosaccharides 10 ml Urine
4 Thin layer chromatography for carbohydrates 10 ml Urine
5 Paper chromatography for Homogenestic acid/ Alkaptonuria 10 ml Urine
6 Expanded Newborn screening (TSH,17-OHP, Biotinidase, Immunoreactive Trypsinogen, G6PD, Galactose, GALT) Blood spot on S&S filter paper
AMINO ACID DISORDERS  
7 HPLC for amino acids 3 ml EDTA Blood
8 HPLC for sulphur amino acids (Homocysteine and others) 3 ml EDTA Blood
MUCOPOLYSACCHARIDOSIS
9 Qualitative and quantitative analysis of urine for MPS 24 hours Urine
10 Cellulose acetate electrophoresis for Mucopolysaccharidosis 24 hours Urine
11 Hurler syndrome - MPS I (Iduronidase) 3 ml EDTA Blood
12 Hunter syndrome - MPS II (Iduronate 2-sufatase) 3 ml EDTA Blood
13 Sanfillipo disease-MPS III A -alpha-hexosaminidase (alpha-N acetyl glucosaminidase) 3 ml EDTA Blood
14 Sanfillipo disease-MPS III B-alpha-hexosaminidase (alpha-N acetyl glucosaminidase) 3 ml EDTA Blood
15 Sanfillipo disease-MPS III D-alpha-hexosaminidase (alpha-N acetyl glucosaminide 6 - sulfate) 3 ml EDTA Blood
16 Morquio Syndrome Type A- MPS IV A (galactose 6-sufatase) 3 ml EDTA Blood
17 Morquio Syndrome Type B- MPS IV B (Beta galactosidase) 3 ml EDTA Blood
18 Maroteaux-Lamy syndrome MPS VI (Aryl sulphatase B) 3 ml EDTA Blood
19 Sly disease MPS VII (Beta-glucuronidase) 3 ml EDTA Blood
20 Prenatal Diagnosis (Enzyme assay) Chorionic Villi (30mg)/15-20 ml Amniotic fluid
LYSOSOMAL STORAGE DISORDERS
21 Fabry disease (Alpha-Galactosidase) 3 ml EDTA Blood
22 GM1 Gangliosidosis (Beta Galactosidase) 3 ml EDTA Blood
23 Pompes (Alpha-Glucosidase) 3 ml EDTA Blood
24 Gaucher disease (Beta-Glucosidase) 3 ml EDTA Blood
25 Tay Sachs (Hexosaminidase A) 3 ml EDTA Blood
26 Sandhoff (Hexosaminidase A and B) 3 ml EDTA Blood
27 Metachromatic Leukodystrophy (Aryl sulphatase A) 3 ml EDTA Blood
28 Alpha-Mannosidosis type I/II (Alpha Mannosidase) 3 ml EDTA Blood
29 Neuronal ceroid Lipofuschinosis Type 1 3 ml EDTA Blood
30 Krabbe disease (Galactocerebrosidase) 3 ml EDTA Blood
31 Schindler disease 3 ml EDTA Blood
32 Niemann Pick disease A and B (Spingomyelinase) 3 ml EDTA Blood
33 Sialidosis (Neuraminidase) 3 ml EDTA Blood
34 Fucosidosis (Fucosidase) 3 ml EDTA Blood
35 Prenatal Diagnosis (Enzyme assay) Chorionic Villi (30mg)/15-20 ml Amniotic fluid
PRENATAL SCREENING
36 Ist trimester screening (PAPP-A, Fr/b-HCG) 3 ml EDTA Blood
37 2nd Trimester screening (AFP, Free bHCG, Estriol) 3 ml EDTA Blood
Note: Chorionic villi should be preferably sent in tissue culture media (culture media is supplied on demand. Fetal tissue sampling should be done under sterile conditions and samples should be transported in sterile tissue culture media.

Kindly contact us before sending any samples
Contact Information
Email: adalal<at>cdfd.org.in
Phone: +91-40-24749335
Fax: +91-40-24749338
Last updated on: Thursday, 19th March, 2009.

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