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At least 595 records · Page 33Linked to original sources
PubMed1982

The influence of excess lysine on urea cycle operation and pyrimidine biosynthesis.

Rats fed a purified L-amino acid diet with 0.72, 1.50, 2.9 or 4.3% lysine excreted 117, 124, 237 and 628 micrograms/day orotic acid, respectively. Dietary arginine supplementation prevented the orotic aciduria induced by excess dietary lysine. Increased orotic acid excretion was accompanied by a significant depression in urinary urea in rats fed a diet containing 4.3% lysine compared to those fed a diet containing 0.72% lysine. As measured by incorporation of [14C]HCO3, lysine addition to liver slices or isolated hepatocytes resulted in a progressive increase in the rate of orotic acid biosynthesis. The minimum quantity of lysine tested that significantly increased the rate of orotic acid biosynthesis was 0.5 mM or 1 mM for studies with slices and hepatocytes, respectively. Ammonia at concentrations of 0, 0.75, or 5.0 mM NH4Cl linearly increased orotate and urea synthesis. Inhibition of urea biosynthesis resulting from lysine supplementation coincided with an increase in pyrimidine biosynthesis. Addition of 1 mM arginine to the liver incubation media prevented the increased rate of orotic acid biosynthesis caused by lysine. Arginine addition may overcome an approximate 90% competitive inhibition of arginase by excess lysine.

Amino Acids↗
PubMedDate not supplied

Free amino acids in extracts of cultured skin fibroblasts from patients with various amino acid metabolic disorders.

In the search for a simple screening test for prenatal diagnosis of amino acid metabolic disorders, we compared the free amino acid contents in the extract of cultured skin fibroblasts from normal individuals with that from patients with 10 metabolic disorders: maple-syrup urine disease; homocystinuria due to cystathionine synthase deficiency; homocystinuria due to N5, 10-methylene-tetrahydrofolate reductase deficiency; citrullinemia; argininosuccinic acidemia: propionic acidemia; hyperprolinemia Type II; non-ketotic hyperglycinemia; hydroxyprolinemia; and hyperonithinemia. An accumulation of abnormal metabolites was not found in any of the disorders except argininosuccinic aciduria. Argininosuccinic acid anhydrides were detected in cell extracts from all four patients only after the extract was boiled at acid pH for 2 1/2 h. Thus, it is concluded that the measurement of free amino acids in extracts from cultured fibroblasts is not a useful screening technique in the diagnosis of inborn errors of amino acid metabolism.

Amino Acid Metabolism, Inborn Errors↗
PubMed1981

Simultaneous determination of the four major catecholamine metabolites and estimation of a serotonin metabolite in urine by capillary gas chromatography of their tert-butyldimethylsilyl derivatives.

We have developed a routine capillary gas-chromatographic profiling method for simultaneous quantitative determination of the tert-butyldimethylsilyl derivatives of homovanillic acid, vanilmandelic acid, 3-methoxy-4-hydroxyphenylethylene glycol, and 3,4-dihydroxyphenylacetic acid and the estimation of 5-hydroxyindole-3-acetic acid in urine. The method is useful for diagnosis and followup of patients with functional tumors characterized by increased urinary excretion of metabolites originating from the metabolism of tyrosine and tryptophan--e.g., neuroblastoma, pheochromocytoma, carcinoid, and melanoma. It may also be applicable in pharmacokinetic studies of administered aromatic amino acids (parkinsonism, mental diseases, loading tests) and for diagnosis and followup of patients with inborn errors of metabolism that are characterized by organic aciduria (for instance, tyrosyluria and phenylketonuria).

Adolescent↗
PubMed1977

Intermittent maple syrup urine disease: a case report.

A case of intermittent maple syrup urine disease (branched chain keto-aciduria) in an 8-year-old girl is reported. The early detection of this rare disorder is important since control of branched chain amino acid intake may control metabolic abnormalities and prevent neurological damage.

Child↗
PubMed1997

L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship.

Three out of four sibs in a North-African family were affected with L-2-hydroxyglutaric aciduria. The youngest sib was most severely handicapped: she was diagnosed at 2.5 years of age, whereas the then 7- and 10-year-old siblings had a less pronounced psychomotor retardation. All patients had an increased head circumference in contrast to the healthy, non-affected sibling. Urine and plasma levels of L-2-hydroxyglutaric acid in the three sibs were similar and showed only a small variation. Magnetic resonance imaging (MRI) of the brain in the eldest sib showed hyperintense signal on T2-weighted images of the basal ganglia, dentate nucleus and subcortical white matter. The youngest sib showed identical white matter abnormalities of the corpus medullare cerebelli. These abnormalities were consistent with demyelination and/or spongiosis. On two occasions cerebrospinal fluid amino acid chromatography in the youngest sib showed an increased concentration of lysine and a decreased level of glutamine. Plasma lysine was normal. It is concluded that L-2-hydroxyglutaric aciduria is almost invariably associated with neurological disease; the severity of the symptoms does not seem to be completely dependent on the extent of the biochemical abnormalities and may even be variable within a family.

Ataxia↗
PubMed1979

Review of Metabolic Screening Program of Children's Hospital, Vancouver, British Columbia. 1971--1977.

1. Between 1971 to 1977, 74,521 urines, collected on filter paper and mailed in, were screened by the Metabolic Screening Program of the Children's Hospital. These represented 45.9% of live births in B.C. hospitals were the program has been available. The mean age of the infants was 4.4 weeks. Urines were examined by chromatography with ethyl acetate-pyridine-water for sugars. 1423 (2.13%) had an abnormal pattern necessitating a repeat urine card. A persistent abnormality was noted in 167 (0.22%) and from these a liquid urine sample was obtained for two dimensional amino acid chromatography and/or a repeat sugar chromatography. 2. In 47 (0.06%) of these a definite metabolic abnormality was confirmed. These included cases of Iminoglycinuria (8), Hartnup trait (4), Nonketotic hyperglycinemia (2), Histidinemia (1), Cystathioninuria (5), Argininosuccinic aciduria (1), Maple Syrup Urine Disease (1), Diabetes Mellitus (1), Renal glycosuria (1) and Persistent galactosuria (3). 201 infants had a slight increase of cystine and/or lysine, and 19 of these were documented to be heterozygous for cystinuria.

Amino Acids↗
PubMed2002

Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features.

PURPOSE: To describe epilepsy and EEG findings in the early-onset cobalamin (Cbl) C/D deficiency, an inborn error of intracellular Cbl metabolism characterized by high plasma levels of methylmalonic acid, homocystine, and homocysteine. METHODS: Type and frequency of seizures were studied in 10 patients (six boys and four girls) who underwent waking and sleep EEG. RESULTS: Half of patients had seizures in the first year of life (either concurrent with the other symptoms of disease or some months after the onset of disease); seizures occurred after 2 years in the other half of patients. Convulsive status epilepticus was the initial manifestation in three patients. During the follow-up, nine patients had seizures (mainly partial) despite specific treatment for Cbl C/D deficiency and antiepileptic drugs. Focal or multifocal epileptiform abnormalities during waking EEG that increased during sleep EEG were recorded in the majority of patients. Plasma levels of homocystine and homocysteine were constantly higher than normal, despite therapy institution. CONCLUSIONS: Epilepsy and EEG abnormalities are prominent features in the early-onset type of combined methylmalonic aciduria and homocystinuria due to Cbl C/D deficiency, possibly related to the pathologically and persistently high levels of homocysteine, experimentally proven to induce seizures. Plasma amino acids evaluation and urinary acid organic analysis should be performed in any infant showing seizures associated with feeding difficulties and failure to thrive, at onset during the first year of life, as well as in any child with convulsive status epilepticus and a history of psychomotor developmental delay of unknown origin.

Age of Onset↗
PubMed2004

Fungal metabolic model for type I 3-methylglutaconic aciduria.

Aspergillus nidulans catabolizes Leu to acetyl-CoA and acetoacetate through a pathway homologous to that used by humans. Fungal hlyA encodes a bifunctional polypeptide comprising the last two enzymes in this pathway, 3-methylglutaconyl-CoA hydratase and 3-hydroxy-3-methylglutaryl-CoA lyase. hlyA transcription is specifically induced by Leu. A Delta hlyA mutation removing the complete 3-methylglutaconyl-CoA hydratase C-terminal domain prevents growth on Leu but not on lactose or other amino acids and, in agreement with the predicted enzyme function, leads to Leu-dependent accumulation of 3-methylglutaconic acid in the culture supernatant. These data represent a formal demonstration in vivo of the specific involvement of 3-methylglutaconyl-CoA hydratase in Leu catabolism. Type I 3-methylglutaconic aciduria patients deficient in 3-methylglutaconyl-CoA hydratase show urinary excretion of 3-methylglutaconic acid and, in contrast to the other three types of methylglutaconic acidurias, 3-hydroxyisovaleric acid excretion. Gas chromatography-mass spectrometry analysis revealed an accumulation of both diagnostic compounds in Delta hlyA culture supernatants, illustrating that the metabolic consequences of equivalent inborn errors of metabolism are conserved from fungi to humans. Using our fungal type I 3-methylglutaconic aciduria model, we show that metabolites accumulating in the deficient strain are toxic, although less so than those accumulating in a Delta mccB strain deficient for the upstream enzyme 3-methylcrotonyl-CoA carboxylase. Diagnostic metabolite accumulation is Leu concentration-dependent, in agreement with the ability of Leu intake restriction to reduce the levels of offending metabolites. Delta mccB and Delta hlyA mutations show additive Leu toxicities. The double mutant accumulates 3-methylglutaconic acid, which can therefore be synthesized through 3-methylcrotonyl-CoA carboxylase-dependent and -independent reactions.

Alleles↗