Case 49 -- hyperammonemia

Contributed by Eric Schubert, MD, Jeff Martens, MD, and Warren Diven, PhD
Published on line in February 1996


PATIENT HISTORY:

The patient is a 2 day old, 3200 gram female neonate, born to a 33 year gravida 3, para 2-3 mother at an outlying hospital. The antenatal course and delivery was unremarkable. Apgar scores were 9 and 9. The patient did well initially until approximately 24 hours of age when she became lethargic. A sepsis workup proved negative. At 56 hours she started showing focal siezure activity. She was then transferred to the Children’s Hospital of Pittsburgh for further workup.

Upon arrival, a plasma ammonia level was read as 1,080 (normal 10-65 ug/dL, 5-50 umol/L).

HIGH PERFORMANCE LIQUID CHROMATOGRAPHY:

serum amino acid umol/dL normal range comment
Taurine 15 <25
Phospho-Ethanolamine -
Aspartic Acid 4 <6
Hydroxy Proline - <10
Threonine 7 <30
Serine 11 <27
Asparagine 6 <12
Glutamic Acid 32 <23 elevated
Glutamine 304 <106 elevated
Sarcosine - <1
alpha-Aminoadipic Acid - <1
Proline 56 <53 elevated
Glycine 30 <55
Alanine 113 <82 elevated
Citrulline 15 <7 elevated
alpha-Amino-n-Butyric Acid 7 <6 elevated
Valine 12 <33
Cystine 4 <9
Methionine 7 <8
Cystathionine <1 <1
Isoleucine 3 <10
Leucine - <18 poorly resolved
Tyrosine 8 <18
Phenylalanine 4 <12
beta-Alanine - <5
beta-Aminoisobutyric Acid 24 <1 elevated
Homocystine - <1
gamma-Aminobutyric Acid - <1
Tryptophan - <1
Ethanolamine - <6
Hydroxy Lysine - <4
Ornithine 3 <19
Lysine 20 <33
Histidine 14 <17
3-Methylhistidine 1 <6
1-methylhistidine - <4
Carnosine - <1
Anserine - <1
Arginine 4 <17

FINAL DIAGNOSIS


Case 

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