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Useful Info

THE MISFITS

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

S–Seizures

Source= http://hsc.unm.edu/emermed/ped/physicians/residents/articles/Newborn%20Emergencies%20The%20First%2030%20Days%20of%20Life.pdf

LACTIC ACIDEMIA

Several inborn errors of metabolism are characterized by a metabolic acidosis in which the major
anionic species is lactate. The lactic acid that circulates in the human body is a product of the
anaerobic metabolism of glucose that occurs primarily in the red cells, in kidney medulla and white
skeletal muscle. Some of the lactate is oxidized by red muscle and the kidney cortex, but the bulk
of it is taken up by the liver and converted to glucose or oxidized.
The only metabolic reaction which produces lactate is the NADH2-dependent reduction of pyruvate
which is catalyzed by lactate dehydrogenase, and lactate is always removed by a reversal of this
reaction. Therefore, any condition which results in the accumulation of pyruvate may lead to
inadequate removal of both pyruvate and lactate from the circulation with consequent lactic
acidemia.
source=http://biochemistry.sote.hu/uploads/obi_okt_gra_en/obi_e_tananyag_en/obi_okt_konzultaciok_en/obkonzultacio_lacticacidemia_e.pdf

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

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