Chronic vomiting in a case of citrullinaemia detected after treatment by total parenteral nutrition.

Abstract

SUMMARY We report a case of a 56 year old woman who presented with a long history of chronic attacks of vomiting. On admission to hospital she was cachectic, and attempted parenteral nutrition induced coma. The illness was found to be due to citrullinaemia, a metabolic disorder of the urea cycle. Our patient is the oldest with this disorder so far described in the literature. The main points of the case and its investigation are outlined: hyperammonaemia, amino acid chromatogram, measurement of enzyme activity in skin and liver biopsy material. The therapeutic measures which led to cure are of particular interest.Chronic vomiting in an adult patient without evidence of organic lesions of the gastrointestinal tract or the central nervous system is often considered to be psychogenic.' In children, chronic vomiting is a well known symptom of a metabolic disorder, especially one of urea synthesis leading to hyperammonaemia. Citrullinaemia, a result of an hereditary deficiency of argininosuccinate synthetase, is one of these metabolic diseases. Many cases have been reported in neonates and children, but adult cases are very rare in white people.2 ' We report here the case of an adult female (aged 56 years) with a long history of chronic vomiting traced to citrullinaemia with concomitant bouts of hyperammonaemia. This is the oldest patient so far described. Case reportA 56 year old white woman was referred to our department in October 1980 with cachexia and a long history of chronic cyclic vomiting which had begun in her infancy. There was no past record of such vomiting in her parents and relatives, but her two brothers died shortly after birth of an undetermined cause. The patient's pregnancy and delivery

Clinical and prognostic role of ammonia in advanced decompensated heart failure. The cardio-abdominal syndrome?

“…); confounding causes of hyperammonemia such as liver disease (ambulatory moderate to severe liver disease defined as Child-Pugh score ≥ 7) [14,15], active malignancies, total parenteral nutrition [16,17], signs or symptoms of gastrointestinal hemorrhage (doubtful cases underwent fecal occult blood tests and patients were excluded except that three different samples were negative) [18], steroid use [19].…”

Noncirrhotic hyperammonaemic encephalopathy

“…Total parenteral nutrition (TPN), which often provides more protein than the patient usually consumes enterally, has been reported to cause hyperammonaemia in three clinical settings: in infants, because of hepatic immaturity (56); in adults given TPN containing only essential amino acids (57) in whom the absence of ornithine may impair NH 3 detoxification; and in susceptible patients with long‐term asymptomatic urea‐cycle disorders in whom TPN induces a first episode of NCHE (58, 59).…”

“…As noted above, in many conditions, hyperammonaemia is precipitated in patients with these metabolic disorders by intercurrent infections, both with and without urea‐splitting organisms (11, 60, 116, 119), fever (11), total parenteral nutrition (58, 59), gastrointestinal bleeding (increased load of absorbed protein from the gut) (53, 54), steroid use (52) (increased muscle catabolism), trauma (55), exposure to insect repellent (115) and intake of valproic acid (88–91) or alcohol (119). Pregnancy, especially the puerperium, is also a risk factor for NCHE in susceptible patients (114), probably owing to the metabolic stress that occurs during that period, but also possibly as a consequence of the delivery of an infant who does not bear an OTC‐deficient gene and can provide ureagenetic activity prenatally for the mother.…”

Hyperammonemia in uncontrolled Type2 Diabetes Mellitus

“…Many mechanisms plays role in increased ammonia production. The metabolism of proteins increases blood ammonia levels and can be seen with total parenteral nutrition, GI hemorrhage, steroid use [7][8][9][10] . Insulin has a global effect on protein metabolism, increasing the rate of protein synthesis and decreasing the rate of protein degradation.…”