Useful Info
Few UseFul Marker In IEM   

 
The first useful marker is the ammonia level. Urea cycle defects have extremely elevated ammonia levels, sometimes in excess of 2000 ug/dL. Organic acidemias and benign transient hyperammonemia of the newborn (THAN) have ammonia elevations that can overlap, but are not usually as high as those found in urea cycle defects.
 
The next useful laboratory marker is the presence or absence of hypoglycemia. Infants with elevated ammonia levels in the presence of hypoglycemia have a reasonable likelihood of having an organic acidemia. Infants with hyperammonemia without hypoglycemia tend to have urea cycle defects. Hypoglycemia without hyperammonemia can signal a carbohydrate metabolism defect (e.g., galactosemia, defect in gluconeogenesis, or a glycogen storage disease) or a fatty acid oxidation deficiency in the older infant. 
source=http://www.hawaii.edu/medicine/pediatrics/pedtext/s04c04.html
Robert Guthrie   08/06/2020

Dr. Guthrie was born in Marionville, MO, in 1916. He grew up in Minnesota, where he earned his medical degree in 1942 and his PhD in bacteriology in 1946 at the University of Minnesota. For the first 12 years of Dr. Guthrie’s career, he was a principal cancer scientist at the Roswell Park Cancer Institute in Buffalo, NY. During this time, Dr. Guthrie’s second son John was born mentally handicapped (1947) and his 15-month-old niece was diagnosed with PKU (1958). By Dr. Guthrie’s own account, it was the birth of his second son John that motivated him to pursue research aimed at preventing mental retardation and developmental disabilities. It was the birth of his niece that brought to his attention the treatable causes of mental retardation.

https://academic.oup.com/labmed/article/40/12/748/2588794

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

Proteins

Blood Gases

Dr Archibald Edward Garrod

What Is Cell ?

Metabolic Pathways

ESSENTIAL / NONESSENTIL AMINO ACIDS

Pyruvate Metabolism

THE MISFITS

GENETIC COUNSELLING

REVIEW(IEM)

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

Valid XHTML 1.0 Transitional Valid CSS!