Nonketotic hyperglycinemia presenting with pin-point pupils and hyperammonemia.
We describe two siblings who presented with lethargy, decreased sucking, respiratory failure and seizures in their first days of life. Pin-point pupils were noted in both siblings. Amino acid analysis revealed elevated concentrations of glycine in plasma and cerebrospinal fluid (CSF), with abnormal CSF/plasma ratios, compatible with hyperglycinemia. Urine organic acid analysis was unremarkable. Hyperammonemia was found in both siblings, but this subsided within 24-72 h. We suggest that pin-point pupils may be an additional presenting sign of nonketotic hyperglycinemia and, if looked for early enough, hyperammonemia may be found in this disorder.
Schiffmann
R
R
Pediatric Neurology Unit, Hadassah University Hospital, Mt. Scopus, Jerusalem, Israel.
Boneh
A
A
Ergaz
Z
Z
Glick
B
B
D000641:Ammonia / Q000097:blood*; D005192:Family Health; D005260:Female; D005998:Glycine / Q000097:blood* / Q000134:cerebrospinal fluid; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012021:Reflex, Abnormal / Q000502:physiology; D012025:Reflex, Pupillary / Q000502:physiology*
D000641:Ammonia; D005998:Glycine