Ornithine transcarbamylase deficiency and pancreatitis.
We describe a male patient with a Y202H ornithine transcarbamylase deficiency gene mutation who had pancreatitis while taking a low-protein diet, citrulline, and sodium phenylbutyrate.
Anadiotis
G
G
Division of Endocrinology/Diabetes and Human Genetics and Molecular Biology, Department of Pediatrics, University of Pennsylvania School of Medicine, The Children's Hospital of Philadelphia, 19104, USA.
Ierardi-Curto
L
L
Kaplan
P B
PB
Berry
G T
GT
D000293:Adolescent; D000681:Amylases / Q000097:blood; D002908:Chronic Disease; D002956:Citrulline / Q000627:therapeutic use; D003131:Combined Modality Therapy; D018753:Diet, Protein-Restricted / Q000009:adverse effects; D004750:Enteral Nutrition / Q000009:adverse effects; D005774:Gastrostomy / Q000009:adverse effects; D006801:Humans; D008049:Lipase / Q000097:blood; D008297:Male; D009154:Mutation / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000150:complications* / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D010195:Pancreatitis / Q000097:blood / Q000201:enzymology / Q000209:etiology*; D010641:Phenotype; D012307:Risk Factors
D002956:Citrulline; D008049:Lipase; D000681:Amylases