Useful Info

Neurologic emergencies
Recognizing a neurologic insult in neonates may be difficult. The clinical
symptoms may be nonspecific. The history may reveal only a change in feeding
pattern or subtle behavioral changes. A useful mnemonic to recall the broad
differential diagnosis of a neonate with altered mental status, ‘‘THE MISFITS,’’
is outlined in Box  Keeping this mnemonic in mind as well as a high index of
suspicion during the initial history and physical examination (non) will help
guide the evaluation and management
 Causes of altered mental status in a neonate: THE MISFITS

T–Trauma (nonaccidental and accidental)
H–Heart disease and hypovolemia
E–Endocrine (eg, congenital adrenal hyperplasia and thyrotoxicosis)
M–Metabolic (electrolyte imbalance)
I–Inborn errors of metabolism
S–Sepsis (eg, meningitis, pneumonia, and urinary tract infection)
F–Formula mishaps (eg, under- or overdilution)
I–Intestinal catastrophes (eg, volvulus, intussusception, and necrotizing enterocolitis)
T–Toxins and poisons

What Is Cell ?   

Cell: The basic structural and functional unit in people and all living things. Each cell is a small container of chemicals and water wrapped in a membrane.

Each cell in the human body -- there are 100 trillion cells in each of us -- contains the entire human genome, all the genetic information necessary to build a human being. This information is encoded within the cell nucleus in 6 billion base pairs, subunits of DNA, packaged in 23 pairs of chromosomes, one chromosome in each pair coming from each parent. Each of the 46 human chromosomes contains the DNA for thousands of individual genes, the units of heredity.

There are notable exceptions including the egg and sperm cells (each of which have only 23 chromosomes containing half the usual amount of DNA) and mature red blood cells (which no longer have a nucleus and so lack chromosomes and DNA).



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


Metabolic Pathways


Few UseFul Marker In IEM

Pyruvate Metabolism

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

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