jmn
Forum Junior
Topics: 4
Posts: 31
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1 wk o infant with poor feeding ,vomitting,and progressive lethargy over past 4 days .born at term ,pregnancy labor ,delivry-uncomplicated ,no cong anomalies she is being breast fed has healthy 2 y r o brother,sister died at 10 days of age after fuul term normal deliveryexam shows decreased musle tone and poor responsiveness reflexs are normal serum bicarbonate is 8 meq/l,ldh is 7.15.plasma ammonia is 10 times upper limit of normal.cause
A mitochondrial disorder
B mucopolysaccride disorder
C organic aminoacid dis
D renal tubular acidosis
E x linked leukodystrophy
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| spjokes
Forum Senior
Topics: 3
Posts: 88
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If symptoms of Hyperammonemia appears in the first 24hrs of birth
see if the child is PRETERM or not.
PRETERM- Transient Hyperammonemia of newborn
FULL TERM- INBORN ERROR OF METABOLISM (i.e., organic acidemia or pyruvate carboxylase deficiency)
After 24 hrs of age the DIAGNOSIS DEPENDS ON THE pH.
Presence or absence of ACIDOSIS is the key to differentiate.
If this pateint has ACIDOSIS, the diagnosis is
C. ORGANIC AMINO ACID DISORDER (ORGANIC ACIDEMIAS)
(SEE TABULAR COLUMN IN NELSON p 426 e-17)
PLEASE CORRECT ME IF I AM WRONG.
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| spjokes
Forum Senior
Topics: 3
Posts: 88
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Are B, D and E considered in Hyperammonemia?
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| AAAAA
Forum Fanatic
Topics: 156
Posts: 1,991
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CAN THE MODERATOR move this question to pediatrics ? Thanks
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