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PubMed1979

Studies on the effects of saturated and unsaturated short-chain monocarboxylic acids on the energy metabolism of rat liver mitochondria.

The effect of eight branched-chain amino acid metabolites, four metabolites from the beta-oxidation, and the unphysiologic acid 4-pentenoic acid on the oxygen consumption rate of liver mitochondria oxidizing pyruvate, 2-oxo-glutarate, and L-palmitoylcarnitine has been investigated. The 12 metabolites are: propionic, isobutyric, 2-Me-butyric, isovaleric, acrylic, Me-acrylic, tiglic, Me-crotonic, butyric, hexanoic, crotonic, and 2-hexenoic acids. The oxidation rate of pyruvate was strongly inhibited by propionic, 4-pentenoic, and isovaleric acids at 0.1, 0.1, and 1.0 mM, respectively. With 2-oxo-glutarate as substrate, the oxygen consumption rate was strongly inhibited at 0.1 mM of propionic, 4-pentenoic, and isovaleric acids. The L-palmitoyl-carnitine oxidation rate was very strongly inhibited by 0.1 mM 4-petenoic acid, whereas butyric and hexanoic acids exerted a moderate inhibition at 0.1 mM. Propionic acid inhibited L-palmitoylcarnitine oxidation slightly at 1.0 mM. It is argued that propionyl-CoA and isovaleryl-CoA inhibit pyruvate and 2-oxo-glutarate dehydrogenases directly, and the significance of the results for ketotic episodes in organic acidurias is discussed.

Amino Acids, Branched-Chain↗
PubMed1984

Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis.

The role of arginine as an essential amino was evaluated in four children with one of the deficiencies of carbamyl phosphate synthetase, ornithine transcarbamylase, argininosuccinate synthetase, and argininosuccinase. Within 15-68 h after arginine deprivation nitrogen accumulated as ammonium or glutamine or both, but glutamine was quantitatively the largest nitrogen accumulation product. Concomitantly plasma and urinary urea levels decreased. Resumption of arginine intake (or citrulline in the case of ornithine transcarbamylase deficiency) promptly led to correction of the hyperammonemia, hyperglutaminemia and hypoargininemia. Ornithine was an unsatisfactory substitute for arginine. Arginine deprivation did not interfere with carbamyl phosphate synthesis as manifested by orotic aciduria. It is concluded that arginine is an indispensable amino acid for children with inborn errors of ureagenesis and its absence results in the rapid onset of symptomatic hyperammonemia.

Amino Acid Metabolism, Inborn Errors↗
PubMed1979

[Selective screening for organic acidurias (author's transl)].

The difference between mass screening of all newborns and selective screening of certain sick newborns is defined and the characteristic clinical features of organic acidurias are outlined. According to own experiences during the last 5 years, the author pleads for the introduction of a systematically performed selective screening for organic acidurias by gas chromatography on all hospitalized pediatric patients showing symptoms suggesting inborn errors of metabolism. Two or three well equipped laboratories should be enough to cover demands for all the pediatric beds in the Federal Republic of Germany. Some results of our selective screening for organic acidurias are presented.

Amino Acid Metabolism, Inborn Errors↗
PubMed1993

Cerebrospinal fluid amino acids, purines and pyrimidines as a tool in the study of metabolic brain diseases.

After establishing more extended reference values for amino acids, purines and pyrimidines in cerebrospinal fluid (CSF) in infancy and childhood, we studied 1250 CSF-aliquots from patients who were undergoing a diagnostic lumbar puncture for diverse clinical indications. Our primary aim was to answer the question whether determination of the concentration of amino acids, purines and pyrimidines in CSF is a useful tool in screening for metabolic disorders in children with unexplained mental retardation. In unexplained mental retardation (95 patients) we observed varying abnormalities of CSF. These were reproducible in only 2 patients (a decrease of homocarnosine in combination with two unidentified compounds). Striking abnormalities in pyrimidine content which are limited to CSF are found in argininosuccinic aciduria and uraemia. In uraemia a general decrease in amino acids in CSF and increase of gamma-aminobutyric acid (GABA) was observed. The results obtained indicate that determination of amino acids, purines and pyrimidines in CSF is only of limited value in the diagnosis of unexplained mental retardation.

Adolescent↗
PubMed2006

An OTC deficiency 'phenocopy' in association with Klinefelter syndrome.

Late-onset urea cycle disorder in a 20-month-old boy is unusually associated with Klinefelter syndrome with a 47XXY karyotype. We record the typical clinical and biochemical findings of ornithine transcarbamylase (OTC) deficiency in a young boy with a short history of recurrent vomiting, self mutilating behaviour, lethargy, ataxia and seizures. Laboratory studies showed hyperammonaemia and orotic aciduria, with normal citrulline and other urea cycle amino acids. Unfortunately, a liver biopsy for OTC activity measurement was refused by the parents. A rapid reversal of phenotype was seen on the introduction of a low-protein diet with accompanying benzoate and phenylbutyrate administration. Linkage studies suggested the inheritance of two X chromosomes, which was confirmed by karyotype analysis. Sequencing of all exons and immediate splice site regions revealed no sequence alterations in these sections of the OTC gene. A search for skewing of X-inactivation in the liver was not possible but we did show a random pattern of X-inactivation in leukocytes. The possibility of maternal X chromosome iso-disomy in our patient was discounted by microsatellite analysis, which revealed the inheritance of two independent X chromosomes. Mutation analysis in the OTC gene has shown that approximately 20% of patients with liver biopsy confirmed OTC deficiency do not have mutations in the coding or immediate splice-site sequences of this gene. Their classification as OTC phenocopies remains speculative, awaiting clarification of the underlying DNA alteration. We report on the novel association of OTC deficiency and Klinefelter syndrome with the additional interest of a probable unusual genetic defect underlying the OTC abnormality.

Chromosomes, Human, X↗
PubMed2002

Branched-chain organic acidurias.

Branched chain organic acidurias are a group of disorders that result from an abnormality of specific enzymes involving the catabolism of branched chain amino acids (leucine, isoleucine, valine). Maple syrup urine disease (MSUD), isovaleric acidaemia (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) represent the most commonly encountered abnormal organic acidurias. All these four disorders present in neonates as a neurologic distress of the intoxication type with either ketosis or ketoacidosis and hyperammonaemia. There is a free interval between birth and clinical symptoms. MMA, PA and IVA present with a severe dehydration, leuconeutropenia and thrombopenia which can mimic sepsis. All these disorders can be diagnosed by identifying acylcarnitine and other organic acid compounds in plasma and urine by gas chromatography mass spectrometry or tandem MS-MS. These disorders are amenable to treatment by removing toxic compounds and by using special diets and carnitine.

Amino Acid Metabolism, Inborn Errors↗
PubMed1980

Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: another possible case of glutaric aciduria type II.

The clinical and biochemical abnormalities in a neonate, who died in coma accompanied by severe hypoglycaemia at the age of 3 days, are described. The study of the urinary metabolic profiles of organic acids and amino acids revealed that the excretion rates of glutaric acid, isovaleric acid, isovalerylglycine, 3-hydroxyisovaleric acid and isobutyric acid were very high. Increased excretion rates were also found for 2-methylbutyric acid, adipic acid, caproylglycine, 5-hydroxycaproic acid, caproic acid and butyric acid. The amino acid, sarcosine, was excreted in enhanced amounts and the patient had lactic aciduria, whereas the excretion of 3-hydroxybutyric acid was only moderately increased. This abnormal excretion pattern is consistent with a defect in the metabolism of acyl-CoAs and sarcosine. Normal activity of glutaryl-CoA dehydrogenase was found, excluding glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).

Acyl Coenzyme A↗
PubMed1984

Increased urinary excretion of aromatic amino acid catabolites by Microtus montanus chronically infected with Trypanosoma brucei gambiense.

Microtus montanus infected with Trypanosoma brucei gambiense for 16 and 21 days excreted significantly greater quantities of several aromatic amino acid catabolites when compared to uninfected control animals. Very large quantities of three aromatic alpha-keto acids (alpha-oxocarboxylic acids), phenylpyruvic acid, 4- hydroxyphenylpyruvic acid and indole-3-pyruvic acid, were excreted by infected animals. Increased excretion of indole-3-lactic acid and indole-3-acetic acid was also detected. Gas chromatographic-mass spectral analysis of the trimethylsilyl derivatives of phenylpyruvic acid, 4- hydroxyphenylpyruvic acid and indole-3-pyruvic acid confirms the identity of the aromatic alpha-keto acids elevated during infection. The marked alpha-keto aciduria indicates that a large disturbance exists in aromatic amino acid metabolism in this chronic animal model of African trypanosomiasis. The disturbance may contribute to the pathogenesis of the disease. The increased catabolite concentrations may also prove to be useful diagnostically and prognostically.

Amino Acids↗
PubMed2000

Acrodermatitis enteropathica-like eruption in an infant with nonketotic hyperglycinemia.

Acrodermatitis enteropathica is a rare inherited disorder characterized by zinc deficiency and a triad of dermatitis, diarrhea, and alopecia. It is an autosomal recessive condition thought to be due to the inability to absorb zinc from the gastrointestinal tract. Acquired zinc deficiency due to a variety of etiologies may produce a similar clinical picture. These causes include inadequate supply, malabsorption, and low zinc stores. In addition to zinc, deficiencies of other nutrients such as branched chain amino acids have induced an acrodermatitis enteropathica-like eruption. We describe a case of a 26-month-old boy with a rare inborn error of metabolism known as nonketotic hyperglycinemia who developed an acrodermatitis enteropathica-like eruption. In addition to zinc deficiency, the patient was deficient in branched chain amino acids due to a low protein diet instituted to reduce his elevated glycine levels. The rash did not respond to zinc replacement alone, and therefore is most likely a combination of amino acid and zinc deficiency. Acrodermatitis enteropathica-like eruptions have been described in other conditions that cause decreased serum amino acids, such as maple syrup urine disease and organic acidurias. This is the first case describing an association between acrodermatitis enteropathica and nonketotic hyperglycinemia.

Acrodermatitis↗
PubMed1987

Effect of glycine on the induction of orotic aciduria and urinary bladder tumorigenesis in the rat.

The mechanism by which amino acids increase the cellular levels of orotic acid (OA) was investigated. Administration of glycine (2.5 mmoles/100 g) to rats resulted in a 100-fold increase in urinary OA excretion, which was inhibited by pretreatment with cycloheximide or actinomycin D. The induction of OA synthesis from NH4Cl but not from carbamoylaspartate (CA) was inhibited by cycloheximide, indicating that the cycloheximide sensitive step was after the formation of ammonia and before the formation of CA. The glycine-stimulated OA synthesis was not inhibited by acivicin, a potent inhibitor of the cytosolic carbamoylphosphate (CP) synthetase, implicating the mitochondrial CP synthetase in supplying the CP for OA synthesis. Preliminary results indicated that cycloheximide did not inhibit glycine-induced urea synthesis to any significant extent. The results thus suggest that (i) the increased OA synthesis induced by glycine requires a transcription-translation dependent step and (ii) the regulatory step may be the transport of mitochondrial CP to cytosol and/or the synthesis of cytosolic CA. Attempts to determine whether increased exposure of urinary bladder to high concentrations of OA will influence bladder tumorigenesis revealed that chronic administration of glycine (2.5 mmoles/100 g, ip, daily, 5 days a week for 20 weeks) resulted in a 44% increased incidence of hyperplastic, preneoplastic, and neoplastic lesions. Some of these rats also exhibited stones in urinary bladders. The mechanism by which glycine induces tumorigenesis in the urinary bladder is currently being explored.

Ammonium Chloride↗
PubMed1990

CT in glutaric aciduria.

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Amino Acid Metabolism, Inborn Errors↗