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Citrulline for urea cycle disorders in Japan.

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BACKGROUND The amino acid l-citrulline is used as a therapeutic agent for urea cycle disorders (UCD) including ornithine transcarbamylase deficiency (OTCD), carbamoyl phosphate synthetase I deficiency (CPSD), and N-acetylglutamate synthase deficiency. There are few reports, however, on the use of

Serum citrulline as a biomarker of gastrointestinal function during hematopoietic cell transplantation in children.

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OBJECTIVE We sought to determine whether serum citrulline (CIT), an amino acid produced by small bowel enterocytes, was associated with clinical and biochemical markers of gastrointestinal function in children undergoing hematopoietic cell transplantation (HCT). METHODS We conducted a multicenter,

ALDH18A1-related cutis laxa syndrome with cyclic vomiting.

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Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal

[Clinical characteristics and analysis of mass spectrometric data in patients with ornithine transcarbamylase deficiency].

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OBJECTIVE To explore the clinical manifestations and biochemical characteristics of patients with ornithine transcarbamylase deficiency (OTCD) so as to increase the clinician awareness for this disease. METHODS The clinical manifestations, blood ammonia levels, citrulline levels, urinary orotic acid

Recurrent somnolence in a 17-month-old infant: late-onset ornithine transcarbamylase (OTC) deficiency due to the novel hemizygous mutation c.535C > T (p.Leu179Phe).

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Herein, we describe a case of a now 28-month-old boy who presented at the age of 17 months with four episodes of recurrent vomiting and somnolence during a period of four months with increasing severity. A comprehensive clinical and metabolic evaluation revealed normal blood pH and blood glucose,

Perinatal pathology casebook.

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Citrullinemia, a rare inborn error of metabolism, is characterized by a deficiency of argininosuccinic acid synthetase that results in large increases in plasma ammonia, citrulline, and glutamine, with normal acid-base balance. The neurologic symptoms vary from poor feeding, vomiting, and

Urea cycle function in the dog with emphasis on the role of arginine.

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English Pointer puppies were used in experiments designed to assess urea cycle function. A preliminary assay revealed a dietary arginine (Arg) requirement of 0.40% for maximal weight gain of puppies fed a chemically defined L-amino acid diet. Subsequent studies showed that consumption of an Arg-free

Accelerated hematopoietic syndrome after radiation doses bridging hematopoietic (H-ARS) and gastrointestinal (GI-ARS) acute radiation syndrome: early hematological changes and systemic inflammatory response syndrome in minipig.

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OBJECTIVE To characterize acute radiation syndrome (ARS) sequelae at doses intermediate between the bone marrow (H-ARS) and full gastrointestinal (GI-ARS) syndrome. METHODS Male minipigs, approximately 5 months old, 9-12 kg in weight, were irradiated with Cobalt-60 (total body, bilateral gamma

Morphological and functional impairment in the gut in a partial body irradiation minipig model of GI-ARS.

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OBJECTIVE Göttingen minipig (G-MP) displays classic gastrointestinal acute radiation syndrome (GI-ARS) following total body irradiation (TBI) at GI doses which are lethal by 10-14 days. In collaboration with BARDA, we are developing a hemi-body/partial body irradiation (PBI) model by exposing only

Markers of Intestinal Damage and their Relation to Cytokine Levels in Cardiac Surgery Patients.

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In patients undergoing cardiac surgery, both extracorporeal circulation (ECC) and intraoperative mesenterial hypoperfusion may account for increased cytokine levels and lead to postoperative gastrointestinal (GI) symptoms. We investigated levels of the intestinal damage markers intestinal fatty acid

Safety and Efficacy of Teduglutide in Pediatric Patients With Intestinal Failure due to Short Bowel Syndrome: A 24-Week, Phase III Study.

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This study evaluated the safety and efficacy of teduglutide in pediatric patients with short bowel syndrome-associated intestinal failure (SBS-IF).A 24-week, phase III trial with 2 randomized, double-blind teduglutide dose groups and a nonblinded standard

N-acetylglutamate synthetase deficiency: clinical and laboratory observations.

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Two male siblings presented in the first 6 weeks of life with emesis, diarrhoea, metabolic acidosis and lethargy. A male sibling had previously died at 14 months of age from liver failure of unknown aetiology. Both of the current cases had mild hyperammonaemia with normal orotic acid, organic acid

Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening.

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Argininosuccinate lyase deficiency is a urea cycle disorder which can present in the neonatal period with hyperammonemic encephalopathy, or later in childhood with episodic vomiting, growth and developmental delay. Abnormal hair, hepatomegaly, and hepatic fibrosis are unique features of this

Acute liver failure following cleft palate repair: a case of therapeutic acetaminophen toxicity.

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Background : Acetaminophen is a widely used analgesic and antipyretic agent in the pediatric population. While the hepatotoxic effects of the drug have been well recognized in cases of acute overdose and chronic supratherapeutic doses, the toxic effects of acetaminophen are rarely documented in

Argininemia as a cause of severe chronic stunting and partial growth hormone deficiency (PGHD): A case report.

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BACKGROUND Argininemia is an autosomal recessive inherited disorder of the urea cycle. Because of its atypical symptoms in early age, diagnosis can be delayed until the typical chronic manifestations - including spastic diplegia, deterioration in cognitive function, and epilepsy - appear in later

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