usmle6789
Forum Senior
Topics: 33
Posts: 49
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a 1 week old new born has had poor feeding ,vomiting and progressive lethargy over the past 4 days. She was born at term. Pregnancy, labour and delivery were normal.she had no congenital abnormalities. She is being breast-fed. She has a healthy 2yr old brother.
Sister died at 10 days of age after a full term birth. Examination shows a decreased muscle tone and poor responsiveness. Reflexes are normal. HCO3- 8 meq/l, PH 7.15 and plasma ammonia level is 10 times the upper limit of normal. Most likely cause?
1] mitochondrial disorder
2] mucopolysacharride disorder
3] organic acid metabolic disorder
4] renal tubular acidosis
5] X- linked leukodystrophy
I think its 3 here. But really I don’t have any clue about this Q
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| tamriko
Forum Elite
Topics: 23
Posts: 296
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Hmm, very interesting question. Obviously, the new born has a hyperammonemia, which suggests of urea cyclic disorders, which is x-linked disorder. This could be organic acid metabolic disorders. I also think that right answer is 3. :roll:
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| ELM
Forum Guru
Topics: 28
Posts: 936
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I'll go with 3 as well.
But Distal RTA could be the answer too??!!
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ELM
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