Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0042963 (
vomiting
)
31,883
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Citrullinemia type I (
CTLN1
) is an inherited urea cycle disorder, now included in most newborn screening panels in the US and Europe. Due to argininosuccinate synthetase deficiency,
CTLN1
can lead to recurrent hyperammonemic crisis that may result in permanent neurologic sequelae.
Vomiting
in patients with urea cycle disorders may either be the result or cause of acute hyperammonemia, particularly if due to an illness that leads to catabolism. Therefore, age-appropriate common etiologies of
vomiting
must be considered when evaluating these patients. We present a 1-month old male infant with
CTLN1
who had a 1-week history of
vomiting
and was discovered to have hypertrophic pyloric stenosis. This is the first documented case of an infant with
CTLN1
who was later diagnosed with hypertrophic pyloric stenosis, and only the second case of concomitant disease.
...
PMID:Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant. 2476 95
