Hyperlysinemia

Woody, Norman C.

doi:10.1001/archpedi.1964.02090010545015

Cited by 28 publications

(21 citation statements)

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“…A considerable excretion of homocitrul line is observed in four inborn errors of metabolism: the hyperornithinemia, hyper ammonemia and homocitrullinuria (HHH) syndrome [4,6,20], hyperlysinemia [1,22], saccharopinuria [3] and citrullinemia [2,7,15,19,21], Homocitrulline excretion has not been observed in any of the other defects of zyme and by Lusty et al [ 12] for the rat liver enzyme. The conditions under which this reaction takes place are, however, not likely to prevail in the matrix space of the mito chondria where OTC is localized [5]: a sub stantial reaction could only be demonstrated at pH 9, the rate of the reaction was 4% of that with ornithine as substrate, while the K for lysine was found to be about 50 mmol/1 [12,14].…”

Section: Introductionmentioning

confidence: 99%

Separation of Ornithine and Lysine Activities of the Ornithine-Transcarbamylase-Catalyzed Reaction

Hommes¹,

Ag²,

Scott³

et al. 1983

Enzyme

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Several lines of evidence are presented that an entity is present in mitochondria which converts lysine and carbamylphosphate to homocitrulline, distinct from the ornithine transcarbamylase (OTC): lack of inhibition by lysine of OTC with ornithine as substrate at the pH of the mitochondrial matrix, a K(m) for lysine of 6.3 mmol/l in the crude mitochondrial extract, versus a K(m) of 55.3 mmol/l after partial purification of OTC, decrease of the specific activity of OTC with lysine as substrate and increase of the specific activity with ornithine as substrate after heat denaturation, and separation of the activities for ornithine and lysine after isoelectric focusing. This would explain the excretion of homocitrulline in the HHH-syndrome, saccharopinuria, citrullinemia and hyperlysinemia. The fact that homocitrulline excretion is not observed in OTC deficiency suggests that the activity responsible for homocitrulline excretion is closely related to OTC.

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Section: Introductionmentioning

confidence: 99%

Separation of Ornithine and Lysine Activities of the Ornithine-Transcarbamylase-Catalyzed Reaction

Hommes¹,

Ag²,

Scott³

et al. 1983

Enzyme

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“…he was unable to find it in urine of adults. Pipecolic Certain microorganisms form pipecolic acid from a-acid also has been found in the urine of a child with aminoadipic acid [3]; others derive it from lysine by hyperlysinemia [49] and in urine of patients with pathways similar to those described for mammals [20, hyperthyroidism [38]. GHADIMI et al [13], however,35].…”

Section: Introductionmentioning

confidence: 99%

Excretion of Pipecolic Acid by Infants and by Patients with Hyperlysinemia

Woody

Pupene

1970

Pediatr Res

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Pediat. Res. 4: 89-95 (1970) ExtractPipecolic acid has been found in urine from normal infants and from children with hyperlysinemia. The reaction of pipecolic acid with ninhydrin reagent, using separation procedures in automated ion-exchange systems for amino acid analysis, produced a color constant of low value (1.21 compared with 27.6 for leucine) that could be overlooked in routine analyses of physiological fluids. Pipecolic acid was present in the urine from: four premature infants (6-23 days old) 1.2-8.1 ,«g/ m g creatinine; two of four term infants (3-5 days old) 1.3 and 2.1 ,«g/mg creatinine; and one of four infants (4-11 months old) 2.1 /jg/mg. No pipecolic acid was found in the urines of four infants 14-30 months old. In patients with hyperlysinemia, the amounts of pipecolic acid excreted in the urine were: 3.1 ^g/mg creatinine (4-year-old girl); 5.2 //g/rng creatinine (6-year-old boy); 6.2 /"g/mg creatinine (9-year-old girl); and 4.8 ,ug/mg creatinine (12-year-old girl). SpeculationThe low color yield of pipecolic acid, when separated by standard automated ion-exchange analysis methods, may account for past failures to detect small amounts of this substance in physiological fluids. Amounts of pipecolic acid excreted by young infants and by children with hyperlysinemia indicate that a degradation pathway for lysine, via pipecolic acid to a-aminoadipic acid, is operative in man. Introductionamino acids by infants, children, and adults [2,4,8-10, 14, 16, 19, 21-23, 25, 26, 28, 30, 36, 39, 41-45, 47, 48] Pipecolic acid has been shown to be a product of lysine make no mention of pipecolic acid as a normal urinary metabolism in rats [31][32][33], guinea pigs [5,20,34], constituent, but JAGENBURG [18] detected pipecolic and turkeys [6,7]. It has been detected in plants [53] acid in urine from infants less than 1 year old; however, and is derived from lysine in some of them [15,24]. he was unable to find it in urine of adults. Pipecolic Certain microorganisms form pipecolic acid from a-acid also has been found in the urine of a child with aminoadipic acid [3]; others derive it from lysine by hyperlysinemia [49] and in urine of patients with pathways similar to those described for mammals [20, hyperthyroidism [38]. GHADIMI et al. [13], however,35].attempting to detect pipecolic acid in urine from norReports of the presence of pipecolic acid in human mal premature infants, infants, and adults, and from urine are conflicting. Numerous studies of excretion of patients with hyperlysinemia were unsuccessful, and

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“…In 1964, a 4J yr old girl was reported with mental retardation, excessive lysinuria, and hyperlysinemia (1). Since then two additional siblings and a first cousin have been discovered to have a similar metabolic abnormality.…”

Section: Introductionmentioning

confidence: 99%