numb
Forum Newbie
Topics: 5
Posts: 14
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A 1-week-old newborn has had poor feeding,
vomiting, and
progressive lethargy over the past 4 days. She was
born at term; pregnancy,
labor, and delivery were uncomplicated, and she had no
congenital
anomalies. She is being breast-fed. She has a
healthy 2-year-old brother; a
sister died at 10 days of age after a full-term birth.
Examination
shows decreased muscle tone and poor responsiveness;
reflexes are normal.
Serum bicarbonate level is 8 mEq/L, pH is 7.15, and
plasma ammonia
level is 10 times the upper limit of normal. Which of
the following is the
most likely cause?
A
) Mitochondrial disorder
B
) Mucopolysaccharidoses disorder
C
) Organic acid metabolism disorder
D
) Renal tubular acidosis
E
) X-linked leukodystrophy
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| WaqasQureshi
Forum Newbie
Topics: 2
Posts: 72
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its C
there is high ammonia this means that there is defect of ammonia disposing mechanisms.
ammounia is disposed by kidney and liver. The liver is the major organ to dispose it off and so its through urea cycle. The urea cycle utilizes organic acids like aspartic acid and glutamic acid.
When there is defect in their metabolism, they get accumulated and their availability is limited for gluconeogenesis which causes lactic acid to accumulate as well. This leads to ANION GAP and HCO3 decrease and hence, the decrease in pH.
There is not enough protein decomposition and the liver isnt fully functional on the first day of birth so these disorders take some time to come into action. Mother is breast feeding and thus providing the lactalbumin. which is a protein and needs to be decomposed. Anyway, I hope you ot
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