Perhaps
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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
Please help with the diagonosis. Thanks!
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| djacosta
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i say C its freakin hard cant figure out exactly what it is...
http://pediatrics.aappublications.org/cgi/content...
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| humbty
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Couldnt it be D hereditary RTA. Regarding to Harrisons that can be a combination of RTA 1 and 2.
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| djacosta
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i dont really know it just doesnt give all the info to get a clean feel for even my own answear....you might be right..
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| 3abeer
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i think the answer would be C
but not sure
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| Diego Casali
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The correct answer is A.
I did a similar question in USMLEWorld about Reye's syndrome.
Here, they are talking about the differential diagnosis between acquired hyperammoniemia from Reye's syndrome and hereditary hyperammoniemia from deficiencies of enzymes that are used in the first steps of the urea cycle (e.g., CPS I and ornithine transcarbamoylase).
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| study_ing
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http://www.emedicine.com/PED/topic1057.htm#sectio...
Patients with urea cycle disorders are rarely acidotic. Severe refractory acidosis suggests organic acid disorder or mitochondrial disorder.
http://www.emedicine.com/NEURO/topic162.htm#secti...
Hyperammonemia, along with acidosis, ketosis, and a low bicarbonate level, is suggestive of an organic acidemia. In addition, hyperglycinemia and hypoglycemia also are seen in some organic acidemias. Hyperammonemia, in addition to acidosis, ketosis, and increased lactate and citrulline, indicates pyruvate carboxylase deficiency
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| study_ing
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im trying to look for general clues here rather than just the answer..hopefully will be able to figure out something in the end
- Patients with urea cycle disorders may be alkalotic due to stimulation of the respiratory drive by ammonia
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| study_ing
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Blood lactate: This is useful in ruling out mitochondrial diseases
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| study_ing
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its a tie between a and c..probably id vote for c, due to the article reference given by djacosta
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