Make sure to know it all about Inborn Errors of Metabolism

Biotechnology & Healthcare General Knowledge in Biotech & Healthcare Healthcare
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Inborn Errors of Metabolism (IEM) are a large group of genetic diseases which is caused by inherited deficiency or lack (or abnormality) of proteins that have structural, receptor, enzymatic or carrier roles. IEMs include disorders arising due to failure of metabolic pathways involved in storage and/or breakdown of various food end products like carbohydrates, fatty acids etc.

Altered or failed breakdown of these substances result in abnormal accumulation of substances which are toxic for the body subsequently causing problems. IEMs occur 1 in 2500 births.

Congenital adrenal hyperplasia

A 17-OHP test helps diagnose a rare genetic disorder called congenital adrenal hyperplasia (CAH). In CAH, a genetic change, known as a mutation, prevents the adrenal gland from making enough cortisol. As the adrenal glands work harder to make more cortisol, they produce extra 17-OHP, along with certain male sex hormones.

CAH can cause abnormal development of sex organs and sexual characteristicsCAH owing is the most common cause of genital ambiguity in the newborn and is present in about 1 in 15,000 live births worldwide

Labsystems Diagnostic’s 17OH Progesterone FEIA Kit

Labsystems Diagnostics’ Neonatal 17-OH-Progesterone FEIA test is a fluorometric enzyme immunoassay enabling the quantification of 17-hydroxyprogestrone steroid present in blood samples dried on filter paper. The test can be used for the screening of newborn for Congenital Adrenal Hyperplasia (CAH).

Congenital Hypothyroidism

Congenital hypothyroidism (CH) is a condition that affects the body’s thyroid gland, a small organ in the lower neck. People with CH are unable to produce enough thyroid hormone, a chemical that is essential for healthy growth and development. If left untreated, CH can cause sluggishness, slow growth, and learning delays. However, if detected early and treatment is begun, individuals with CH often can lead healthy lives.

Labsystems Diagnostic’s hTSH FEIA Plus Kit

Labsystems Diagnostics’ Neonatal hTSH FEIA Plus is a  fluorometric enzyme immunoassay for the quantitative determination of human thyroid stimulating hormone (hTSH, human thyrotropin) in blood samples dried on filter paper as a primary test for screening of babies for congenital hypothyroidism (CH).

G6PD Deficiency

G6PD deficiency is also known as favism (after intake of fava bean) because certain incentives such as beans or drugs can induce its occurrence. This disease, generally asymptomatic, is often manifested as acute hemolytic anemia and the resulting hyperbilirubinemia. G6PD deficiency is inherited. Children who have it are born with it because it was passed down in genes from one or both of the parents. The gene responsible for this condition is on the X chromosome.

Labsystems Diagnostics’ G6PD Kit

Labsystems Diagnostics’ Neonatal G6PD is an enzymatic method for the quantitative determination of glucose-6-phosphate dehydrogenase activity in blood samples dried on filter paper, with fluorescence detection, intended for newborn screening of glucose-6-phosphate dehydrogenase deficiency.

Biotinidase deficiency

Biotinidase deficiency (BIOT) is an inherited condition in which the body is unable to reuse and recycle the vitamin biotin. Because the body needs free biotin to break down fats, proteins, and carbohydrates effectively, individuals with BIOT are less able to process important nutrients. There are two types biotinidase deficiency (BIOT) that differ in severity and treatment. Both forms of the condition can cause serious health concerns. Children with BIOT who are identified through newborn screening and begin treatment immediately usually remain healthy with normal development.

Labsystems Diagnostics’ Biotinidase Kit

Labsystems Diagnostics’ Biotinidase is an enzymatic method for the quantitative determination of Biotinidase activity in blood samples dried on filter paper, with fluorescence detection, intended for newborn screening of Biotinidase deficiency.


Galactosemia is inherited disorder in which the body is unable to (use metabolize) the simple sugar galactose.

There are 3 forms of the disease:

  • Galactose-1 phosphate uridyl transferase (GALT) deficiency: Classic galactosemia, the most common and most severe form
  • Deficiency of galactose kinase (GALK)
  • Deficiency of galactose-6-phosphate epimerase (GALE)

People with galactosemia are unable to fully break down the simple sugar galactose. Galactose makes up one half of lactose, the sugar found in milk. If an infant with galactosemia is given milk, substances made from galactose build up in the infant’s system. These substances damage the liver, brain, kidneys, and eyes.  Parents/Guardians must be careful about feeding a galactosemic child foods containing galactose.

Labsystems Diagnostic’s Galactose Kit

Labsystems Diagnostics’ Galactose is an enzymatic method for the quantitative determination of Galactose activity in blood samples dried on filter paper, with fluorescence detection, intended for newborn screening of Galactose deficiency

Labsystems Diagnostics, a subsidiary of Trivitron Healthcare, is based in Finland and has been a forerunner in innovative diagnostic research and development for nearly 40 years, pioneering new technologies for newborn screening. As the market leader in newborn screening, Labsystems diagnostics’ products save and improve the lives of babies in more than 70 countries.

Being a one-stop solution provider for newborn screening, offering the most comprehensive and high quality screening kits, supported by best-in-class automation capabilities and user friendly software, Labsystems Diagnostics have a strong record of technology leadership, including pioneering research to enable the early detection of diseases.

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