Useful Info
Blood Gases   

Blood gases are helpful in determining the adequacy of respiratory function of the baby (oxygenation and ventilation) as well as the baby acid/base balance. Blood gases can be performed from arterial (either a stab or via an arterial line), venous (through an intravenous cannula) or capillary (heel prick) specimens. Repeated arterial stabs are strongly discouraged, as they are painful and do not represent oxygenation as well as pulse oximetry. Arterial stabs may be taken from the radial artery (provided there is also a palpable ulnar pulse) or from the brachial artery, although this is in close proximity to the median nerve. All three specimens will give a good assessment of acid/base status and pCO2, whereas arterial specimens are required to assess pO2. It is always important to note the  (percentage inspired oxygen) when interpreting blood gases. Each unit should have their own reference ranges

source=Newborn Emergency Transport Service, Victoria.

During Gestation   

Several groups of inherited metabolic disorders, most notably the organic acidemias, urea cycle defects, and certain disorders of amino acid metabolism, typically present with acute life-threatening symptoms of an encephalopathy. These symptoms are the result of toxic effects of accumulating metabolites on the central nervous system (CNS). Because most of these metabolites cross the placenta and are cleared by the mother during gestation, affected infants usually appear normal at birth. The interval between birth and onset of clinical symptoms ranges from hours to months

source= Barbara K. Burton,MD

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


Did You know?

Can you believe?

What Is Cell ?


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

Valid XHTML 1.0 Transitional Valid CSS!