Useful Info

All life requires protein since it is the chief tissue builder and part of every cell in the body. Among other functions, proteins help to: make hemoglobin in the blood that carries oxygen to the cells; form anti-bodies that fight infection; supply nitrogen for DNA and RNA genetic material; and supply energy.

Proteins are necessary for nutrition because they contain amino acids. Among the 20 or more amino acids, the human body is unable to synthesize 8, therefore, these amino acids are called essential amino acids. A food containing protein may be of poor biological value if it is deficient in one or more of the 8 essential amino acids: lysine, tryptophan, methionine, leucine, isoleucine, phenylalanine, valine, and threonine. Proteins of animal origin have the highest biological value because they contain a greater amount of the essential amino acids. Foods with the best quality protein are listed in diminishing quality order: whole eggs, milk, soybeans, meats, vegetables, and grains.



Genetic counselling is the process of providing information about the medical and family implications of a specific disease in a clear and non-directive manner. Such counselling aims to help individuals make informed decisions about planning a family, taking part in screening programmes and accepting prophylactic therapies. Genetic counselling may be provided by a medical geneticist, a specialist nurse, or a clinician with particular skills in this area, such as an obstetrician or paediatrician. Perception of genetic risks clearly depends on perceived hazard. For example, a 5% (or 1:20) risk of genetic disease may be perceived as low if the disease is treatable, but unacceptably high if not.
Clinical genetics services
Medical  geneticist 
Diagnosis and management of genetic disease, assessment of genetic risk, managing screening programmes, interpretation of genetic test results. Subspecialties include prenatal genetics, dysmorphology (syndrome identification), cancer genetics
Genetic counsellor
Assessing genetic risk, provision of genetic counselling (providing accurate risk information in a comprehensible format), predictive testing for genetic disease and provision of information and support
DNA diagnostic laboratory
Identifying and reporting disease-causing mutations in validated disease genes. Some laboratories also provide linkage analysis to track diseases in families. Laboratories often work in a consortium, as so many different disease genes have now been identified
Cytogenetics laboratory
Identifying pathogenic numerical and structural chromosome anomalies in prenatal, postnatal and oncology samples
Biochemical genetics laboratory
Metabolite and enzymatic-based diagnosis of IEM. Metabolite-based monitoring of treatment of IEM
Newborn screening laboratory
Provision of population-based newborn screening, e.g. PKU, cystic fibrosis, etc.
(IEM = inborn errors of metabolism; PKU = phenylketonuria)
Unusual Smell In Urine?

Gene&Gene Mutation

The Role of Neuroimaging in Diagnosis and Treatment of inborn errors of metabolism

Body regulates thousands of metabolic reactions simultaneously

During Gestation

Did You know?

Can you believe?

Metabolic Acidosis

Blood Gases

Dr Archibald Edward Garrod

What Is Cell ?

Metabolic Pathways


Few UseFul Marker In IEM

Pyruvate Metabolism



Essential role of medical food for IEM

"Criterion for including a test in NBS Panel"

Current Treatment Strategies(IEM)

Benefit of newborn screening

Over the last 3 decades many new and effective therapies.....

Inborn Errors of Metabolism in Infancy: A Guide to Diagnosis

Metabolism Summary

Robert Guthrie

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