Useful Info

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)
Pyruvate Metabolism   

Pyruvate sits at an intersection of key pathways of energy metabolism. It is the end product of glycolysis and the starting point for gluconeogenesis, and can be generated by transamination of alanine. It can be converted by the pyruvate dehydrogenase complex to acetyl CoA which can enter the TCA cycle or serve as the starting point for the synthesis of long chain fatty acids, steroids, and ketone bodies. It also plays a central role in balancing the energy needs of various tissues in the body. Under conditions in which oxygen supply is limiting, (in exercising muscle) or in the absence of mitochondria, (in red blood cells), re-oxidation of NADH produced by glycolysis cannot be coupled to generation of ATP. Instead, its re-oxidation is coupled to the reduction of pyruvate to lactate. This lactate is released into the blood, and is taken up primarily by the liver, where it is oxidized to pyruvate and can be used for gluconeogenesis. Pyruvate participates in several key reactions and pathways. In glycolysis, phosphoenolpyruvate (PEP) is converted to pyruvate by pyruvate kinase. This reaction is strongly exergonic and irreversible. In gluconeogenesis pyruvate requires two enzymes, pyruvate carboxylase and PEP carboxykinase, to catalyze the reverse transformation of pyruvate to PEP. In fatty acid synthesis, pyruvate decarboxylation by the pyruvate dehydrogenase complex produces acetyl-CoA. In gluconeogenesis, the carboxylation by pyruvate carboxylase produces oxaloacetate. The fate of pyruvate depends on the cell energy charge. In cells or tissues with a high energy charge pyruvate is directed toward gluconeogenesis, but when the energy charge is low pyruvate is preferentially oxidized to CO2 and H2O in the TCA cycle, with generation of 15 equivalents of ATP per pyruvate. The enzymatic activities of the TCA cycle are located in the mitochondrion. When transported into the mitochondrion, pyruvate encounters two principal metabolizing enzymes: pyruvate carboxylase (a gluconeogenic enzyme) and pyruvate dehydrogenase (PDH). With a high cell-energy charge, acetyl-CoA, is able allosterically to activate pyruvate carboxylase, directing pyruvate toward gluconeogenesis. When the energy charge is low CoA is not acylated, pyruvate carboxylase is inactive, and pyruvate is preferentially metabolized via the PDH complex and the enzymes of the TCA cycle to CO2 and H2O.


Dr Archibald Edward Garrod

Gene&Gene Mutation

Metabolic Acidosis

Unusual Smell In Urine?

Body regulates thousands of metabolic reactions simultaneously

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

During Gestation


Did You know?

Can you believe?

Blood Gases

What Is Cell ?


Metabolic Pathways


Few UseFul Marker In IEM


New therapies(IEM)


Nutritional treatment in IEM

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

Essential role of medical food for IEM

"Criterion for including a test in NBS Panel"

Current Treatment Strategies(IEM)

Benefit of newborn screening

Acute Encephalopathy

Inborn Errors of Metabolism in Infancy: A Guide to Diagnosis

Metabolism Summary

Valid XHTML 1.0 Transitional Valid CSS!