sobia naeem
Forum Elite
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Posts: 303
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a one week old baby.he has decreased muscle tone,decreased responsiveness,normal reflexes,decreased serum bicarbonate,ph of 7.15,plasma albumin level is 10 times upper limit.it is autosomal recessive.what is the diagnosis?
mucopolysaccharidosis
organic acid metabolism disorder
renal tubular acidosis
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| MARTINA
Forum Newbie
Topics: 1
Posts: 4
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Organic acid metabolism disorder.
Many organic acid disorders present in the neonatal period. Typically, an affected newborn appears normal for the first days of life, but then may develop vomiting, poor feeding, failure to thrive, hypoglycemia, hyperammonemia, seizures, hypotonia and lethargy, progressing to coma. Common findings include ketosis, metabolic acidosis and, in some cases, an unusual odor. Many individuals affected with organic acid disorders have a significant risk of death during infancy.
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| chemamr
Moderator and PGY2
Topics: 703
Posts: 4,442
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i agree, it should be B.
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Any time something is written against me, I not only share the sentiment but feel I could do the job far better myself.
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| sobia naeem
Forum Elite
Topics: 30
Posts: 303
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i feel the same too.but i have no idea what mucopolysaccharidoses is.any idea guys?
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| chemamr
Moderator and PGY2
Topics: 703
Posts: 4,442
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thatīs a step 1 question, check your step 1 books 
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Any time something is written against me, I not only share the sentiment but feel I could do the job far better myself.
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