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At least 451 records · Page 25Linked to original sources
PubMed1978

Biochemical and clinical studies of a new case of alpha-aminoadipic aciduria.

A mentally retarded, 10-year-old female with obesity, hypotonia, clumsiness and mild ocular abnormalities excreted in her urine large amounts of alpha-aminoadipic acid. Amino acid analyser studies and gas-liquid chromatography--mass spectrometry (GC--MS) confirmed the presence of alpha-aminoadipic acid in both urine and plasma but, in contrast to most other patients with this disorder, failed to demonstrate significant levels of alpha-ketoadipic acid in urine. Other known causes of alpha-aminoadipic aciduria were eliminated by showing that levels of lysine, saccharopine and pipecolic acid in plasma and urine were normal and that the activity of glutaryl-CoA dehydrogenase was also normal. Loading with L-lysine and L-tryptophan both increased the concentration of alpha-aminoadipic acid in blood and urine compatible with the primary deficiency of alpha-ketoadipate dehydrogenase, in spite of the absence of alpha-ketoadipic aciduria. Dietary restriction of lysine and administration of vitamins B1 and B6 were unsuccessful in correcting the biochemical abnormality.

2-Aminoadipic Acid↗
PubMed1996

Pregnancy and argininosuccinic aciduria.

We present the outcome of a pregnancy in a woman with mild argininosuccinic lyase deficiency to add to the collective experience of the maternal and fetal effects of urea cycle defects. In females affected with argininosuccinic lyase deficiency, careful clinical and biochemical monitoring of pregnancy will minimize the risk of metabolic decompensation in the perinatal period. Furthermore, it would appear that argininosuccinate is not teratogenic to the development of the human fetus.

Adult↗
PubMed1994

Acrodermatitis enteropathica-like cutaneous lesions in organic aciduria.

Cutaneous lesions resembling acrodermatitis enteropathica were present in two infants with methylmalonic acidemia and in one infant with propionic acidemia. All three infants were being fed a low-protein diet limited in branched-chain amino acids when the skin lesions developed. A deficiency in plasma levels of essential amino acids, particularly isoleucine, was confirmed. Supplementation of the diet with isoleucine in one of the patients led to a prompt improvement of the skin lesions. We conclude that dietary deficiencies associated with the treatment of organic aciduria should be added to the causes of acrodermatitis enteropathica-like cutaneous lesions.

Acrodermatitis↗
PubMed1984

Electroencephalographic findings in urea-cycle disorders.

Eleven electroencephalograms in 4 infants with urea-cycle disorders were reviewed. All infants had one or more abnormal EEGs. The abnormalities consisted mainly of multiareal spikes, spike-waves, or sharp-and-slow-wave activity. In addition, one patient, a term infant, exhibited exaggerated spindle-delta bursts. This infant, and also one other at a similar age, had monorhythmic paroxysmal theta activity. Clinically, all patients had seizures shortly preceding abnormal EEGs. EEG alterations were encountered over a wide range of elevated serum ammonia levels. Normal EEGs occurred in the face of slightly elevated levels. It is concluded that epileptiform EEG alterations may be a characteristic manifestation of urea-cycle disorders.

Amino Acid Metabolism, Inborn Errors↗
PubMedDate not supplied

[Iatrogenic acrodermatitis enteropathica-like syndrome in leucinosis].

INTRODUCTION: Leucinosis (maple syrup urine disease) is a metabolic disorder caused by an enzymatic deficiency involved in the degradative pathways of the three branched-chain amino acids. We report an observation of acrodermatitis enteropathica-like syndrome induced by essential amino acid deficiency in a child with leucinosis. CASE REPORT: A child with leucinosis was referred to our hospital for exfoliative dermatitis of the perioral and anogenital regions associated with diarrhea and pancytopenia. The diagnosis of iatrogenic acrodermatitis enteropathica-like syndrome was confirmed after screening showing isoleucine deficiency. Rapid response was observed after adequate isoleucine supplementation. DISCUSSION: The acrodermatitis enteropathica-like eruption in our patient was due to an iatrogenic amino acid nutritional imbalance. Our observation underlines the risk of using a branched-chain amino acid-free formula without adequate supplementation of deficient amino acids. In addition, dietary insufficiency of isoleucine, associated with the treatment of organic aciduria should be added to the causes of acrodermatitis enteropathica-like syndrome.

Acrodermatitis↗
PubMedDate not supplied

[Interdisciplinary treatment of early-onset ornithine transcarbamylase (OTC) deficiency. Two case reports and a review].

PATIENT REPORTS: We report on a male preterm infant (gestational age 31 weeks, birth weight 1420 g) and a male term infant (gestational age 38 weeks, birth weight 3680 g) with ornithine transcarbamylase (OTC) deficiency. After inconspicuous cardiopulmonary adjustment, both entered a state of metabolic crisis with respiratory insufficiency and ventilatory requirement at the 2nd and 4th day of life, respectively. Diagnosis of hyperammonemia (NH(3) > 1000 micromol/l) was followed by the detection of a plasma amino acid pattern that is typical for OTC-deficiency and an excessive orotic aciduria. Beside intravenous treatment (insulin-glucose-infusion, lipid infusion, sodium benzoate, arginine, L-carnitine), the preterm infant received an exchange transfusion and was supplied with central venous catheters, hemofiltration and hemodialysis. He died after severe disturbances of circulation and coagulation at the 14th day. The male term infant tolerated the effective hemofiltration and was dicharged home with specific therapy at day 26. CONCLUSIONS: Time of diagnosis and influence of additional risk factors are decisively for the prognosis of OTC-deficiency. The immediate aims of therapy (stabilization of vital functions, reduction of plasma ammonium, control of nutrition) can only be realized in cooperation between neonatology, division of metabolism, pediatric nephrology and pediatric surgery.

Exchange Transfusion, Whole Blood↗
PubMed1987

An arginine-deficient diet in humans does not evoke hyperammonemia or orotic aciduria.

The essentiality of dietary arginine was examined in adult humans with three biochemical indices: plasma levels of ammonium and amino acids and urinary orotic acid excretion. Three male and two female subjects participated in the 10-d study. Subjects consumed an L-amino acid diet containing 0.74 g protein equivalent/kg body weight on d 1-5; these amino acid concentrations were doubled on d 6-10. The diet was devoid of arginine on d 3-8. Daily urine was collected and blood samples were drawn on 6 of the 10 d at 0, 0.5, 1, 2, 3 and 4 h after the breakfast meal. When arginine was removed from the diet, urinary orotic acid did not increase, in contrast to what has been reported in most other animal species tested. Plasma ammonium concentrations remained within normal limits throughout the study. A small postprandial decrease in plasma arginine concentration was observed when the arginine-deficient diet was consumed; this decline disappeared when the diet was resupplied with arginine. The results of this study suggest that over the short term the adult human's capacity for de novo arginine synthesis when fed a dietary deficiency of arginine is sufficient for the maintenance of normal cellular metabolism.

Adult↗
PubMed2002

Pattern of inborn errors of metabolism in an Omani population of the Arabian Peninsula.

We analysed all patients < 18 years of age diagnosed with inborn errors of metabolism (IEM) in the Metabolic Division, Sultan Qaboos University Hospital, Muscat, Oman from June 1998 to December 2000. A total of 82 patients from 76 families were studied, of whom 33 (40%) were aged < 1 week at presentation. Disorders identified included different lysosomal storage disorders (22), organic acidurias (9), carbohydrate metabolic disorders (9), congenital lactic acidosis (9), urea cycle disorders (8), amino acidopathies (8), fatty acid oxidation defects (7/82) and various other miscellaneous disorders (10). Tandem mass spectrometry helped in the diagnosis of 26 (32%) cases. Parental consanguinity was twice as frequent in the study patients as in the general population. Duration of follow-up ranged from 1 to 30 months (median 15) during which time 46/56 (82%) patients with disorders amenable to specific dietary and drug therapy available in Oman were free from frequent exacerbation. Our study shows the relevance of identifying patients with IEM in Oman and the need to establish screening for the conditions identified and provide effective management protocols.

Adolescent↗
PubMed1983

[Neonatal hyperammonemia].

Experience with severe neonatal hyperammonaemia in the Newborn Intensive Care Unit of the Leuven University Hospital is reported and compared with the literature data. Among eleven patients seven presented with the transient neonatal hyperammonaemia-syndrome and four with a urea cycle defect. Prompt recognition of the transient neonatal hyperammonaemia syndrome is important because its prognosis is much better than that of the primary urea cycle defects presenting in the neonatal period.

Amino Acid Metabolism, Inborn Errors↗
PubMed1982

A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders.

A simple enzyme-multiple auxotroph assay has been developed for the identification of newborn infants with several of the inherited metabolic defects in the Krebs cycle for the detoxification of ammonia and in the ornithine metabolic pathway. This mass screening test is used with dried filter paper blood specimens and can easily be added to existing multiple testing programs presently used in screening for phenylketonuria or congenital hypothyroidism. This assay can be used to detect patients with citrullinemia, argininosuccinic acid lyase deficiency, and argininemia. In addition to these urea cycle disorders, the several types of ornithinemia, which can result in gyrate atrophy of the retina or mental retardation, should be detectable with this assay. The strengths and weaknesses of this assay are discussed and a large-scale pilot screening trial is proposed.

Amino Acid Metabolism, Inborn Errors↗
PubMed1993

[Neonatal hemolytic-uremic syndrome, methylmalonic aciduria and homocystinuria caused by intracellular vitamin B 12 deficiency. Value of etiological diagnosis].

BACKGROUND: A hemolytic-uremic syndrome associated with methylmalonic aciduria and homocystinuria is seen during the first weeks of life. A molecular defect in the CbIC mutation has been found. This report describes a new case with this association. CASE REPORT: A girl, the second in this family, was born at term: her birth weight was 2,100 g, height was 47 cm and head circumference 31.5 cm. She was admitted at 32 days of age with hemolytic anemia and fragmencytosis, renal failure and thrombocytopenia. The renal failure required peritoneal dialysis followed by hemofiltration. The signs of pancytopenia of central origin and liver failure seen at that time raised the possibility of an intracellular defect of B12 metabolism. Chromatography of the amino acids and organic acids in the urine and plasma revealed homocystinemia, hypomethioninemia, homocystinuria and methylmalonic aciduria. The deficient B12 metabolism was confirmed in fibroblasts which showed deficits in both methyl and adenosyl-cobalamin synthesis. The metabolic disturbances were completely resolved after intravenous administration of hydroxy-cobalamin (2,000 micrograms per day) and folinic acid (25 mg per day) for 5 days. But the neurological abnormalities persisted, with retinitis pigmentosa and major leukodystrophic changes seen by MRI, and the infant died one month later. CONCLUSION: This new case emphasizes the importance of systematically screening all cases of neonatal hemolytic-uremic syndrome for this autosomal recessive disorder.

Female↗
PubMed1974

Argininosuccinic aciduria: investigation of an affected family.

Two siblings with argininosuccinic aciduria were studied by an interdisciplinary team. Considerable variability in the clinical expression of this disorder was observed in comparison with previously reported cases. Detection of the heterozygous state in the parents and in a fetal sibling was demonstrated by tissue assay for argininosuccinase activity. Mental retardation and neurologic deficits in the affected children were irreversible with dietotherapy but growth was progressive and the general course was relatively benign.

Amino Acid Metabolism, Inborn Errors↗
PubMed1993

Identification of N-acetyl-alpha-aminoadipic acid in the urine of a patient with alpha-aminoadipic and alpha-ketoadipic aciduria.

A 3.5-year-old Japanese boy with a mild speech disturbance excreted a large amount of alpha-aminoadipic acid into the urine. The amino acid analysis using an amino acid analyser confirmed the presence of alpha-aminoadipic acid in both urine and plasma. We detected alpha-aminoadipic acid in the hydrolysate of the effluent and washwater fraction through cation exchange resin. This suggested the presence of acetylated derivatives and we identified N-acetyl-alpha-aminoadipic acid using liquid chromatography-atmospheric pressure ionization mass spectrometry (LC-API-MS). The concentrations of alpha-aminoadipic acid and N-acetyl-alpha-aminoadipic acid in the urine of a patient with alpha-aminoadipic aciduria were 376.9 nmol/mg creatinine and 18.1 nmol/mg creatinine, respectively. We also detected alpha-ketoadipic acid in the urine of this patient using LC-API-MS.

2-Aminoadipic Acid↗