Useful Info
Dr Archibald Edward Garrod    



Dr Archibald Garrod was the first to connect a human disorder with Mendel laws of inheritance. He also proposed the idea that diseases came about through a metabolic route leading to the molecular basis of inheritance
Dr Archibald Garrod was the son of the physician, Alfred Baring Garrod, who diagnosed and studied rheumatoid arthritis. Although his father initially intended for Archibald to study business, his teachers recognized and encouraged him to go into the field of science and medicine. Dr Garrod studied medicine at Oxford University and became a physician
Dr Garrod was studying the human disorder alkaptonuria. He collected family history information (as well as urine) from his patients. Based on discussions with Mendel advocate William Bateson, Dr Garrod deduced that alkaptonuria is a recessive disorder. In 1902,Dr Garrod published a book called The Incidence of Alkaptonuria: a Study in Chemical Individuality. This is the first published account of a case of recessive inheritance in humans.

Dr Garrod was also the first to propose the idea that diseases were "inborn errors of metabolism." He believed that diseases were the result of missing or false steps in the body chemical pathways. In 1923, his studies on alkaptonuria, cystinuria, pentosuria, and albinism were published as a book: Inborn Errors of Metabolism.Dr Garrod attributed a biochemical role to genes, and laid the groundwork for the next wave of discovery — the molecular basis of inheritance.
Source=http://www.dnaftb.org/13/bio.html

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

 

Inborn errors of metabolism (IEM), though individually rare are collectively common. Average incidence of 50+ common IEMs is considered to be approx 1 in 1,000 live births. With annual birth rate of approximately 25 million babies in India, we can expect at least 25,000 babies being born with IEM in India and hence it is a significant burden to the families and societies. Over the last 3 decades many new and effective therapies have emerged for the management and treatment of IEMs. As of today approximately 70 different forms of therapeutic agents are available to help people suffering from IEM. Besides these we have various forms of transplants–liver cell transplants, liver transplant (both ALT and OLT), bone marrow or HSCT and kidney transplant now easily available at various parts of India. Amongst hundreds of IEM, certain disorders are common and treatable with simple forms of therapeutic agents. Urea Cycle Disorders and Organic Acidemias are top on the list. Every pediatrician and neonatologist must be aware of emergency management of these two group of disorders as they may present at any age especially in the 1stdecade and more so in infancy. Both of these groups of disorders may present with hyperammonemia as their first manifestations and needs to be treated with easily available medications as oral form of Sodium Benzoate (250–500 mg/kg/day in 2-3 divided doses), low protein diet or temporary stoppage of protein intake till acute crisis is under control. For UCDs one can use arginine (granules or powder) hydrochloride or base–250 mg/kg/day in 2-3 divided doses except for Arginase deficiency. For disorders like CPS and NAGS deficiency Carbaglu of Carbamylglutamate or N Acetyl Glutamate can also be used in the dose of 100–300 mg/kg/day. Now a days it is also recommended for treatment of certain organic acidemias e.g. propionic acidemia. Other products like Sodium Phenyl butyrate or injectable forms of Arginine (10%) or Sodium Benzoate+Sodium Phenylbutyrate) are not available in India and are very costly for an average Indian patient. Once acute crisis is managed, special diets with low protein are successful in managing most of the UCDs. For Organic acidemias like Propionic acidemia, Methyl malonic Acidemia and Isovaleric acidemia, L-Carnitine in the dose of 100–300 mg/kg/day must be used. Injectable form of L-Carnitine is also available for emergency management. Correction of acidosis is very important along with supplementation of adequate amount of dextrose. One can use Dextrose-Insulin drip in emergency. Besides these, other medications like Betaine, NTBC, Dextromethrophane, Diazoxide, certain vitamins e.g. Biotin, Vit-B12, Thiamine, Riboflavin, Folic acid, Folinic acid, Pyridoxine, Pyridoxal–5-Phosphate, Vit C, certain aminoacids like Glycine, Ornithine, Citrulline etc are also available for the management of various types of IEMs. Of late many enzymes are available for enzyme replacement therapies of LSDs e.g. Gaucher, Pompe, Fabry’s Disease, MPS I, II and VI.

 

 

http://www.geneticcentre.org/MolCytogenet-supplimentary%20issue%20ishg2014.pdf
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

LACTIC ACIDEMIA

Did You know?

Can you believe?

Blood Gases

What Is Cell ?

Proteins

Metabolic Pathways

ESSENTIAL / NONESSENTIL AMINO ACIDS

Few UseFul Marker In IEM

Pyruvate Metabolism

THE MISFITS

New therapies(IEM)

GENETIC COUNSELLING

REVIEW(IEM)

Nutritional treatment in IEM

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

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