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