Metabolic Genetics

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Metabolic Genetic


Precision in diagnosis, including the identification of disease subtypes, directly influences treatment and patient outcomes. Understanding of pathology at a molecular level is critical for identification of many diseases and their subtypes.

Presenting ACTIA from MedGenome, delivering ACTIONABLE insights to enable happier outcomes. Actia provides an end-to-end integrated solution to clinical genomics in India and is highly focussed on the Indian population.

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Metabolic Disease Genetics

Metabolic diseases span a vast range of conditions. Inherited metabolic disorders have a defective gene that results in an enzyme deficiency. Metabolic disorders include cystic fibrosis, phenylketonuria (PKU), hyperlipidaemia etc.

*Shashi V, McConkie-Rosell A, Rosell B, et al. The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. Genet Med. 2014;16(2):176–82.

Genetics of Metabolic Disorders

Inborn Errors of Metabolism (IEM) comprise a group of disorders in which a genetic defect causes a clinically significant block in a metabolic pathway resulting either in accumulation of substrate behind the block or deficiency of the product. Most of the metabolic disorders are genetic conditions. While metabolic disorders are rare individually, collectively they affect 1-3% of the world population; 1 in 1000 infants are known to inherit a metabolic disorder, which therefore creates a health burden in the society. The onset of symptoms can be sudden or progress slowly. Symptoms may be brought on by foods, medications, dehydration, minor illnesses, or other factors. Symptoms appear within a few weeks after birth in several metabolic conditions. Other inherited metabolic disorders might take years to develop. Many individual disorders have clinical presentations that initially seem very similar to one another. All IEMs are all genetically transmitted typically in an autosomal recessive or X-linked recessive fashion.

Genetics of metabolic disorders

The major categories of IEMs are:


  • A very heterogeneous group of disorders
  • Eg: Phenylketonuria, hereditary tyrosinemia, non-ketotic hyperglycinemia, maple syrup urine disease and homocystinuria

Organic acidemias

  • Caused by abnormal metabolism of proteins, fats or carbohydrates
  • Are characterized by marked metabolic acidosis with ketosis, often with elevated lactate and mild to moderate hyperammonemia
  • Eg: methylmalonic or propionic acidemia, multiple carboxylase deficiency

Fatty acid oxidation defects

  • Also known as Beta-oxidation defects
  • Characterized by hypoketotic hypoglycemia, hyperammonemia, and cardiomyopathy
  • Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) is among the most common of all IEMs and may account for 5% of SIDS cases
  • Eg: short, medium, and long- chain acyl-CoA dehydrogenase deficiency

Primary lactic acidosis

  • Present with severe lactic acidosis
  • Eg: Pyruvate dehydrogenase, pyruvate carboxylase and cytochrome oxidase deficiencies

Urea cycle defects

  • Results from the inability to detoxify nitrogen
  • Characterized by severe hyperammonemia and respiratory alkalosis, with a typical onset after 24 hours of age
  • Eg: citrullinemia, ornithine transcarbamylase deficiency, and arginosuccinic aciduria

Disorders of carbohydrate

  • A heterogeneous group caused by inability to metabolize specific sugars, aberrant glycogen synthesis, or disorders of gluconeogenesis
  • May manifest with hypoglycemia, hepatosplenomegaly, lactic acidosis or ketosis
  • Eg: galactosemia, hereditary fructose intolerance, fructose 1,6-diphosphatase deficiency and the glycogen storage diseases

Lysosomal storage disorders

  • Caused by accumulation of glycoproteins, glycolipids, or glycosaminoglycans
  • Usually present later in infancy, not with a specific laboratory abnormality, but with organomegaly, facial coarseness and neurodegeneration and show a progressively degenerative course
  • Eg: mucopolysaccharidosis, Tay-Sachs, Niemann-Pick disease, Gaucher’s

Peroxisomal disorders

  • Results from failure of the peroxisomal enzymes
  • May present with features similar to the lysosomal storage disorders
  • Eg: Zellweger syndrome and neonatal adrenoleukodystrophy


  • Disordered steroidogenesis (congenital adrenal hyperplasia or SmithLemli-Opitz)
  • Disorders of metal metabolism (Menkes syndrome, neonatal hemochromatosis)

Why Recommend ACTIA for Patients with Genetic Metabolic Disorders?

Reasons for recommendation

  • Molecular confirmation of a clinical diagnosis
  • To differentiate between the genetic and non-genetic forms of the disorders
  • To differentiate between X-linked and autosomal recessive or dominant forms of the disease
  • Carrier detection: Once the molecular diagnosis of an affected child/adult is confirmed, family screening can be offered
  • To provide valuable information to the patient and their family about future medical management
  • Prenatal diagnosis in at-risk pregnancies
  • Therapeutic implications
  • Genetic counselling
Why Recommend ACTIA For Patients with Genetic Ophthalmic Disorders?

ACTIA Offers

MedGenome offers a broad range of pre-designed gene mutation panels which have been developed with in-depth disease understanding of the genetic disorder incorporating the latest research in that particular domain. Our new updated technologies, helpful customer service, and clear result interpretation along with counselling sessions with our Genetic Counsellors, make us equipped to provide you the best available support for your patients and families with inherited metabolic disorders.

Few panels have been listed below

  • Congenital adrenal hyperplasia CYP21A2 (21-0H) deletion/ duplication analysis
  • Congenital adrenal hyperplasia CYP21A2 (21-0H) gene analysis
  • Congenital hypopituitarism gene panel
  • Maturity-Onset Diabetes of the Young (MODY) & neonatal diabetes gene panel
  • Kallmann syndrome gene panel
  • Citrullinemia gene panel
  • Fatty acid oxidation disorders gene panel
  • Mucopolysaccharidosis gene panel
  • Peroxisome assembly disorders (Hepatomegaly and cholestasis) gene analysis
  • GLUT1 deficiency (SLC2A1) deletion/duplication analysis
  • Glycogen storage disorder gene panel
  • Lysosomal Disorders gene panel
  • Metabolic Liver disorder gene panel

Test Methodology

1.Next Generation Sequencing (NGS)

Using genomic DNA extracted from blood, the coding regions of all the genes are captured and sequenced simultaneously by NGS technology on an Illumina platform. The sequence data that is generated is aligned and analyzed for sequence variants.

2.Multiplex ligation-dependent probe amplification (MLPA)

Deletion and duplication analysis of genomic DNA is carried out by MLPA. This method allows for the amplification of multiple targets with only a single primer pair.

Test sample requirements

Test sample requirements
Blood (3-5ml in EDTA tubes)
Extracted DNA samples (1µg high quality DNA)

Required forms

  • Relevant clinical information including all the clinical presentations and symptoms
  • Test request form (TRF)

Turnaround time

  • 4 weeks for NGS
  • 3 weeks for MLPA
  • 3 weeks for Sanger sequencing
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Free Genetic Counselling

Free Genetic Counselling

ACTIA offers all your patients FREE pre & post-test genetic counselling with our expert and certified genetic counsellors.

Best available support for your patients and families via

  • Latest technologies
  • Helpful customer service
  • Clear result interpretation
  • Counselling sessions with our Genetic Counsellors
Dial 1800 103 3691

Our representative will get in touch with you within 24 hours to help you with the registration. You can start prescribing the test right away and help your patients gain clarity about their genetic health.

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