Filter by keywords:



Filtering documents. Please wait...

1/89. Electroencephalographic findings in ornithine transcarbamylase deficiency.

    A 3-day-old infant presented with anorexia, irritability, hypotonia, and seizures. blood ammonia was 2115 micromol/L and amino and organic acid analyses were consistent with ornithine transcarbamylase deficiency. Liver biopsy confirmed only 1% enzyme activity. The patient was treated with hemodialysis. An electroencephalogram (EEG) revealed multifocal independent spike-and-sharp-wave discharges. After initial stabilization he was placed on a low-protein diet with citrulline and phenylbutyrate. Conjugating agents (arginine, sodium benzoate, and sodium phenylacetate) have been added during periods of metabolic decompensation. Although developmentally delayed, the patient has shown signs of clinical improvement and EEG activity has likewise improved with only mild background slowing and no evidence of epileptogenic activity at 4 years of age. A second infant presented at 3 days of age with a similar history, blood ammonia of 1382 micromol/L, and metabolic studies indicative of ornithine transcarbamylase deficiency. EEG showed multifocal independent ictal and interictal discharges. Electrographic abnormalities persisted despite lowering of blood ammonia with hemodialysis and conjugating agents. The patient continued to decline clinically and died on the 7th hospital day. EEG changes parallel the clinical course of ornithine transcarbamylase deficiency and may serve as an objective marker of the effectiveness of therapeutic interventions.
- - - - - - - - - -
ranking = 1
keywords = ornithine transcarbamylase deficiency, transcarbamylase deficiency, ornithine transcarbamylase, transcarbamylase, ornithine
(Clic here for more details about this article)

2/89. Severe late acute allograft rejection in a child after living-related auxiliary partial orthotopic liver transplantation for ornithine transcarbamylase deficiency.

    Auxiliary liver transplantation (ALT) is known to correct liver-based metabolic disorders. However, it remains unclear whether the presence of a native liver influences the long-term prognosis of ALT for metabolic diseases. We reported on a 4-yr-old girl who had undergone living-related auxiliary partial orthotopic liver transplantation (APOLT) for ornithine transcarbamylase deficiency and experienced severe late acute rejection 18 months after liver transplantation, during weaning of immunosuppressive agents. Results of histological analysis of the graft indicated very severe acute rejection (rejection activity index, 9/9), and computed tomography revealed graft liver atrophy. These observations suggest the possibility that severe rejection might occur in APOLT, especially during weaning of immunosuppression.
- - - - - - - - - -
ranking = 0.71428571428571
keywords = ornithine transcarbamylase deficiency, transcarbamylase deficiency, ornithine transcarbamylase, transcarbamylase, ornithine
(Clic here for more details about this article)

3/89. Localized proton MR spectroscopy in infants with urea cycle defect.

    SUMMARY: urea cycle defect is an inborn error of ammonium metabolism caused by a deficient activity of the enzymes involved in urea synthesis. Localized short-TE proton MR spectroscopy, performed in two infants who had citrullinemia and ornithine transcarbamylase deficiency, respectively, showed a prominent increase of glutamine/glutamate and lipid/lactate complex in both cases. N-acetylaspartate, total creatine, and myo-inositol were decreased in the infant with citrullinemia. Proton MR spectroscopy provided useful information for the diagnosis and understanding of the pathophysiology of urea cycle enzyme defect.
- - - - - - - - - -
ranking = 0.14285714285714
keywords = ornithine transcarbamylase deficiency, transcarbamylase deficiency, ornithine transcarbamylase, transcarbamylase, ornithine
(Clic here for more details about this article)

4/89. diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X.

    patients with mitochondrial ornithine transporter deficiency (or HHH syndrome) present with various neurological symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma due to hyperammonemia. We previously described three novel mutations in the ORNT1 gene in Japanese patients with HHH syndrome. In this article, we report a new patient with HHH syndrome, a 52-year-old woman, who had the typical clinical features, except for an absence of mental retardation. When we screened this patient, as well as a previously described Japanese patient, for mutations in the ORNT1 gene, we found that both were homozygous for a nonsense mutation (R179X). Furthermore, reverse transcription (RT)-polymerase chain reaction (PCR) of fibroblast rna from one patient showed exon 4 skipping, as had been observed in a previously reported patient with R179X. These results, together with the findings in our previous report, show that, in three of our five reported Japanese HHH patients (six of ten alleles), R179X is present, suggesting that this is a common mutation in Japanese patients with HHH syndrome.
- - - - - - - - - -
ranking = 0.0094830496840099
keywords = ornithine
(Clic here for more details about this article)

5/89. Hyperdibasicaminoaciduria, hyperammonemia, and growth retardation: Treatment with arginine, lysine, and citrulline.

    A 9-year-old girl with hereditary dibasicaminoaciduria has been studied for three years. Initially, clinical features were: growth failure; anorexia and aversion to protein, spontaneous daily protein intake averaging only 10 gm; fasting and postprandial venous hyperammonemia; subnormal plasma concentrations of lysine, arginine, ornithine, and citrulline, with generalized hypermonobasicaminoacidemia; abnormally high renal clearances of lysine, arginine, and ornithine; and intestinal malabsorption of lysine and arginine. intestinal absorption of citrulline, a precursor of arginine and ornithine, was normal. The patient was observed during four sequential 6-month periods as follows: no treatment (Period I); dietary supplement of arginine and lysine (Period II); dietary supplement of citrulline and lysine (Period III); no treatment (Period IV). During Periods II and III growth rate increased 3- to 4-fold, spontaneous protein intake increased 2- to 3-fold, and abnormalities in blood NH3 and the plasma aminogram were partially corrected. In most respects the citrulline plus lysine supplement was more beneficial than that of arginine plus lysine.
- - - - - - - - - -
ranking = 0.02844914905203
keywords = ornithine
(Clic here for more details about this article)

6/89. gyrate atrophy of the choroid and retina: clinical, ophthalmologic, and biochemical considerations.

    A case of gyrate atrophy of the choroid and retina associated with hyperornithinemia has been subjected to extensive clinical and biochemical investigation. The familial occurrence of the ocular disease and of abnormality of amino acid was unique to this 28-year-old male, being absent in parents and siblings. He presented with progressive visual loss, and was found to have cataracts and large areas of peripheral lacunar atrophy. Clinically there was no other abnormality. However, he was hyperuricemic and has an abnormal EEG. Despite otherwise normal biochemical indices of hepatic, renal, and muscle function; selective catheterization of an artery, the hepatic vein, the renal vein, and a deep forearm vein showed all of these circulatory beds to be producing ornithine according to arteriovenous difference measurements. cerebrospinal fluid and urine contained increased amounts of ornithine. Though electromyography was normal, the muscle biopsy was abnormal. Clinical tests including arginine loading, glucose tolerance testing, and other measurements of blood variables provided inferences as to the metabolic locus of the abnormality. The syndrome is a systemic multiorgan disorder in which the choroid and retina would appear to be target organs and the hyperornithinemia to be of, as yet, undetermined cause and pathogenic significance.
- - - - - - - - - -
ranking = 0.03793219873604
keywords = ornithine
(Clic here for more details about this article)

7/89. Site specific screening for point mutations in ornithine transcarbamylase deficiency.

    ornithine transcarbamylase (OTC) deficiency is a frequent X linked disorder of the urea cycle which is responsible for lethal neonatal hyperammonaemia in males and for various clinical symptoms in heterozygous females. In order to improve the efficiency of our screening for mutant genotypes, we focused on molecular domains of functional or structural importance in the OTC gene, namely the carbamyl phosphate binding domain (encoded by the third exon) and the MspI restriction sites (CCGG) of the coding sequence (located in exons 2 and 7 respectively), as they contain mutation hot spots (CpG doublets). Using this procedure, we were able to identify three new mutant genotypes in OTC deficient children including one nonsense mutation (E 87 K, G 50 ter, G 162 R). Since genetic counselling for OTC deficiency is frequently difficult, molecular screening directed towards specific sites of the coding sequence could allow rapid detection of mutant genotypes and help solve diagnostic problems, especially when carrier status cannot be clarified easily.
- - - - - - - - - -
ranking = 0.58123486989476
keywords = ornithine transcarbamylase deficiency, transcarbamylase deficiency, ornithine transcarbamylase, transcarbamylase, ornithine
(Clic here for more details about this article)

8/89. An unusual presentation of medium-chain acyl coenzyme a dehydrogenase deficiency.

    OBJECTIVE--To report an atypical presentation of medium-chain acyl coenzyme a dehydrogenase deficiency in a 13-year-old girl with hyperammonemic encephalopathy and orotic aciduria meeting the accepted criteria for diagnosis of a female heterozygous for ornithine transcarbamylase deficiency. DESIGN--Case report and definitive biochemical testing. SETTING--Children's hospital and university laboratory. PARTICIPANT--One teenager. INTERVENTIONS--diagnosis and treatment with carnitine. MEASUREMENTS/MAIN RESULTS--Assay ornithine transcarbamylase deficiency had normal results. The diagnosis was confirmed by dna analysis, which revealed homozygosity for prevalent mutation (the adenine to guanine transition at position 985). CONCLUSIONS--patients with a clinical diagnosis of Reye's syndrome have, in general, an inborn error of metabolism. Medium-chain acyl coenzyme a dehydrogenase deficiency and other disorders of fatty acid oxidation may present long after infancy. They may mimic the presentation of defects in the urea cycle.
- - - - - - - - - -
ranking = 0.28571428571429
keywords = ornithine transcarbamylase deficiency, transcarbamylase deficiency, ornithine transcarbamylase, transcarbamylase, ornithine
(Clic here for more details about this article)

9/89. ornithine transcarbamylase (OTC) deficiency in a female patient with a de nova deletion of the paternal x chromosome.

    A girl with ornithine transcarbamylase (OTC) deficiency was investigated for molecular and cytogenetic abnormalities that might explain this phenotype. Analysis with polymorphic dna markers indicated that the patient did not inherit paternal alleles of the OTC locus, but that she did inherit the proximal locus DXS7 and the long arm of chromosome X. High-resolution cytogenetic analysis of the patient indicated a deletion of Xp11.4-p21, whereas both parents had normal karyotypes. Since the mother might be heterozygous according to biochemical tests, a second mutation within the maternal OTC gene cannot be excluded.
- - - - - - - - - -
ranking = 0.084409292227566
keywords = ornithine transcarbamylase, transcarbamylase, ornithine
(Clic here for more details about this article)

10/89. Type II hyperprolinemia: a case report.

    Hyperprolinemia type II (HP II) is a rare inherited metabolic disease due to the deficiency of pyroline-5-carboxylate dehydrogenase. It is generally believed to be a benign condition although some patients have neurological problems such as refractory convulsions. Here we report a six-year-old girl with HP II who admitted to our hospital with recurrent seizure refractory to multiple antiepileptic drugs. She was the third child of healthy, consanguineous parents. The family history was negative for neurological and renal disorders. On physical examination, she had no facial dysmorphy; the anthropometric measurements, and systemic and neurological examinations were normal. Mental and motor development was appropriate for her age. Laboratory findings revealed elevated levels of proline, glycine, and ornithine in serum and pyrroline-5-carboxylate and hydroxyproline in urine. Cerebral computerized tomography and magnetic resonance imaging were both normal. Electroencephalogram showed a very active epileptic abnormality; partial control of seizures was achieved by two antiepileptics. Increased plasma glycine and ornithine levels are the unique features of our case when compared to the other HP II cases reported in the literature.
- - - - - - - - - -
ranking = 0.01896609936802
keywords = ornithine
(Clic here for more details about this article)
| Next ->


Leave a message about 'Amino Acid Metabolism, Inborn Errors'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.