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PubMed1974

Amino acid levels in patients with hyperammonaemia and argininosuccinic aciduria.

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Amino Acid Metabolism, Inborn Errors↗

PubMed1991

[Inborn errors of lysine metabolism].

A wide variety of inborn errors of lysine catabolism have been described. They include: abnormalities of the mitochrondrial catabolism via the "saccharopine pathway", abnormalities of the peroxisomal catabolism via the pipecolic pathway, and "lysine intolerance with periodic ammonia intoxication" linked to urea cycle pathway. These inborn errors are associated with a wide variety of clinical symptoms and biochemical profiles as persistent hyperlysinemia, saccharopinuria, "amino and ketoadipic aciduria, and glutaric aciduria.

2-Aminoadipic Acid↗

PubMedDate not supplied

Orotic aciduria and plasma urea cycle-related amino acid alterations in short bowel syndrome, evoked by an arginine-free diet.

BACKGROUND: The small bowel is believed to play a crucial role in endogenous arginine synthesis. Therefore, an insufficient arginine supply in the situation of massive intestinal resection might impede normal arginine metabolism. This study sought to determine the clinical and metabolic effects of an arginine-free diet in stable short-bowel patients. METHODS: Four patients, mean age 49 years (range: 26-67), mean time from intestinal resection 46 m (range: 15-97), and remnant small bowel of 30 to 100 cm consumed an L-amino acid arginine-free diet (egg pattern) for 5 days (0.9 g protein equivalent/kg/d plus malabsorption adjustments). Fasting plasma amino acids, ammonium, and blood chemistries were assessed at days 0, 3, and 5. Urinary orotate, orotidine, uric acid, urea, creatinine, and total nitrogen were evaluated daily. RESULTS: Significant decreases in plasma levels of arginine, ornithine, and hydroxyproline occurred at day 5. A decreasing trend in plasma citrulline and a significant plasma glutamine increase were also observed in the same period. Conversely, ammonium concentrations remained normal. Regarding urine compounds, striking orotic aciduria with a peak at day 4 (14-fold vs baseline) and significant decreases in uric acid and urea excretion were found. There were no relevant clinical events. CONCLUSIONS: Despite the limited number of patients in our work and their relative heterogeneity, our results support the idea of the indispensability of an exogenous arginine supply in humans under short bowel syndrome conditions. Studies in larger series are needed to further investigate these findings.

Adult↗

PubMed1996

Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia.

Prenatal testing of 12 pregnancies at risk for argininosuccinic aciduria due to argininosuccinate lyase (ASAL) deficiency and three pregnancies at risk for citrullinaemia due to argininosuccinate synthatase (ASAS) deficiency was performed by metabolite detection in amniotic fluid and measurement of enzyme activity in uncultured and cultured chorionic tissue and in cultured amniocytes. From our data and those of previous studies, amniotic fluid argininosuccinate measurement alone is clearly a reliable and rapid diagnostic test for both severe and mild ASAL deficiency if maternal ASAL deficiency can be excluded. For prenatal diagnosis of ASAS deficiency, however, both measurement of the amniotic fluid citrulline level and enzyme assay should be employed.

Amino Acid Metabolism, Inborn Errors↗

PubMed1990

Evaluation of branched-chain amino acid intake in children with maple syrup urine disease and methylmalonic aciduria.

The biochemical and growth responses to dietary branched-chain amino acid (BCAA) intake were studied in two children; one with a disorder of branched-chain amino acid metabolism, maple syrup urine disease (MSUD) (McKusick 24860), and another with methylmalonic aciduria (MMA) (McKusick 25100). Biochemical control of MSUD focussed on plasma leucine levels while measurement of plasma ammonia levels was used in MMA. From 0 to 2.75 years both patients exhibited five episodes of toxicity. In each case toxicity was associated with dietary indiscretion or infection. The quantity of protein tolerated was always less in the MMA patient and was approximately 1 g/kg/day. From 1 to 2.75 years each patient's growth velocity approximated their predicted growth channel except during periods of toxicity. In both cases leucine intake, which gave normal growth without toxicity, was always judged to be less than the FAO/WHO recommendations. The BCAA intake of the MMA patient was remarkably stable from 0.5 to 2.75 years and at 2 years of age isoleucine and valine intake approximated the FAO/WHO recommendations. From 2 to 2.75 years BCAA intake (mg/kg/day) of the MSUD patient was less than that of the MMA patient and well below FAO/WHO recommendations. Neuromotor development in both patients is normal.

Amino Acid Metabolism, Inborn Errors↗

PubMed2006

Study of inherited metabolic disorders in Singapore - 13 years experience.

INTRODUCTION: Recommended by the National Advisory Council of the Disabled, the Ministry of Health of Singapore supported a nationwide study of inherited metabolic disorders (IMDs). When the 5-year project ended, investigations were provided as a diagnostic service. This paper documents our 13-year experience. MATERIALS AND METHODS: Patients with symptoms suggestive of an IMD were referred. Investigations on heparinised blood and/or urine included amino acid analysis using a Beckman 6300 Amino Acid Analyser, organic acids analysis using a Hewlett- Packard gas chromatography and mass spectrometry, mucopolysaccharides quantitative assay and high-resolution electrophoresis, sugars by thin-layer chromatography. RESULTS: Of the 3656 patients studied from 1992 to 2005, IMDs were found in 127 (77 males; 50 females; age range, 1 day to 56 years). Their ethnic distribution was: 55.1% Chinese, 19.7% Malays, 11.0% Indians, 11.0% other races and 3.2% unknown. IMD diagnosed comprised 41 (32.3%) organic acidurias, 34 (26.8%) amino acidaemias/acidurias, 14 (11.0%) urea cycle defects, 15 (11.8%) mucopolysaccharidoses, 6 (4.7%) carbohydrate disorders and 17 (13.4%) others. Twenty-three (18.1%) cases were diagnosed during the neonatal period and 36 (28.3%) after the age of 13. CONCLUSION: Positive detection rate was 3.5% and 48 IMDs were found. Significant proportion of cases had late-onset IMDs. Early identification of IMDs permits timely management, genetic counselling and prenatal diagnosis.

Adolescent↗

PubMed1990

Prenatal diagnosis of inherited metabolic disorders by quantitation of characteristic metabolites in amniotic fluid: facts and future.

An attempt is made to summarize as completely as possible what is known about the prenatal diagnosis of amino- and organic acidurias by direct measurement of characteristic metabolites in amniotic fluid, and to indicate which disorders can potentially be diagnosed prenatally by direct quantitation of metabolites. Furthermore, the disorders are mentioned in which the prenatal diagnosis was proven to be unsuccessful by this approach. The prenatal diagnoses of a case of propionic acidemia and a case of tyrosinemia type I in the 11th and 12th week of gestational age, respectively, are reported and the prospects of performing amniocentesis in the first trimester for prenatal diagnosis are discussed.

Amniocentesis↗

PubMed1997

Tocopherol in inborn errors of intermediary metabolism.

Red blood cell tocopherol was measured in a group of 92 children with inborn errors of intermediary metabolism to evaluate the peroxidative damage in different mitochondrial and cytosolic defects, and to consider the need for treatment or vitamin supplementation. Tocopherol was determined by HPLC with UV detection. Results were expressed in nanomoles red blood cell tocopherol per gram protein. Significant differences (Mann-Whitney; P < 0.001) were found between tocopherol levels in untreated patients: 19 with mitochondrial defects versus 23 with cytosolic enzyme or transport defects, and versus 58 age-matched reference values. In conclusion, mitochondrial enzyme deficiencies, either amino and organic acidurias or defects of energy metabolism, seem to produce an excess of free radicals with the consequent utilization of tocopherol as antioxidant. This is not apparent in the cytosolic enzyme defects studied, whose tocopherol levels are in the normal range. Treatment with tocopherol completely corrects the deficient antioxidant status.

Adolescent↗

PubMed1995

Analysis of fetal and neonatal urine using proton nuclear magnetic resonance spectroscopy.

AIM: To use high field proton nuclear magnetic resonance spectroscopy (1H NMR) to characterise the low molecular weight metabolite composition of neonatal and fetal urine in relation to gestational age and perinatal outcome. METHODS: The first urine passed by two neonatal groups, six full term and five preterm infants with normal renal function, was analysed by 1H NMR and compared with fetal urine from 14 cases with obstructive uropathy. RESULTS: The mean ratios of taurine, myo-inositol, and trimethylamine-N-oxide (TMAO) to creatinine were 4.3, 10.1, and 14.1 times higher, respectively, in the preterm group when compared with those of the full term group. Fetal obstructive uropathy was characterised by glycosuria, amino and organic aciduria, regardless of gestational age (13-30 weeks). CONCLUSIONS: Samples of the first urine passed--that is, urine produced in fetal life--by normal preterm infants are useful controls for cases of obstructive uropathy detected in the third trimester. 1H NMR will become a clinically useful tool for monitoring renal development and abnormalities in utero.

Fetus↗

PubMed2003

Newborn screening in Delaware.

Newborn screening for metabolic, hematologic, and endocrinologic disorders is a well-established public health function. Recent technological advances have made screening possible for more disorders. For many of these disorders, there is evidence that screening is effective; however, some of these disorders are rare, and their response to therapy and their natural history are not completely understood. A number of states have instituted "expanded" newborn screening utilizing a combination of established and new technologies. Other states, including Delaware, have studied the experiences of the states doing expanded screening and have decided to proceed with expanded screening as well. Since early 2003, Delaware has been screening newborns for about 25 disorders, including amino acidopathies, organic acidurias, fatty acid oxidation disorders, hemoglobinopathies, and endocrinopathies.

Delaware↗

PubMed1978

Argininosuccinic aciduria: metabolic studies and effects of treatment with keto-analogues of essential amino acids.

A 22 years old female with the late-onset of argininosuccinic aciduria was successfully treated for 5 months with a mixture of essential amino acids and their keto-analogues. There was a marked change in plasma ammonia, plasma amino acids and argininosuccinic acid excretion. A long term anabolic response was reflected by an increase of total serum proteins and serum albumin by about 1 g/dl during the first 5 months of treatment. There was a striking improvement in the patient's seizure disorder following institution of the keto-analogue therapy.

Adult↗

PubMed1979

Dipropylacetate and hyperglycinemia.

Hyperglycinemia was induced by dipropylacetate (DPA) (dose 14-41 mg/kg per day) in 10 Finnish epileptic patients with neurologically disabling diseases of various kinds. When comparing the levels of glycine in plasma, cerebrospinal fluid and urine from the patients with 10 otherwise comparable patients, and normal values there was a fourfold excretion of glycine in urine. All the treated patients had elevated CSF (49 +/- 23 mumol/l) and plasma (475 +/- 76 mumol/l) glycine concentrations. The plasma/CSF glycine ratio was not influenced by the treatment. In comparison with corresponding values in nonketotic hyperglycinemia and ketotic hyperglycinemia, this condition probably arises in a manner similar to secondary hyperglycinemia in organic aciduria. DPA probably influences metabolism in a way similar to some metabolites of amino acids in organic acidurias.

Adolescent↗

PubMed1985

Antagonism of arginine by excess dietary lysine in the growing dog.

Experiments were conducted with growing English Pointer puppies to examine the effects of ingesting excess lysine. A purified crystalline amino acid basal diet containing 0.40% L-arginine (the arginine requirement for maximal weight gain) and 0.91% L-lysine was fed in all assays. All diets were kept isonitrogenous by the addition of diammonium citrate, and lysine was supplied as L-lysine acetate. Both weight gain and gain/feed were reduced in the presence of 4% excess dietary lysine. However, 1 and 2% excess supplemental lysine had no effect on performance. In a second experiment, a growth response to supplemental arginine was obtained in the presence, but not in the absence, of a growth-depressing level of lysine (4%). Therefore, lysine appeared to depress growth by antagonizing arginine. The mechanism of the lysine-arginine antagonism was examined in a third experiment. Classic signs of arginine deficiency: orotic aciduria, depressed urea formation, hyperammonemia, a reduction in weight gain, and emesis were observed in puppies consuming excess lysine but not in their pair-fed controls. Excess lysine ingestion neither inhibited nor induced liver arginase, but it did result in a generalized amino aciduria early in the experiment. In addition, lysine did not appear to affect arginine absorption. Therefore, the mechanism behind the lysine-arginine antagonism in the dog remains to be elucidated.

Amino Acids↗

PubMed1958