Familial Protein Intolerance with Deficient Transport of Basic Amino Acids: An Analysis of 10 Patients

Kekomäki, M; Visakorpi, J. K.; Perheentupa, Jaakko; Saxén, Lauri

doi:10.1111/j.1651-2227.1967.tb15988.x

Cited by 70 publications

(24 citation statements)

References 23 publications

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“…However, it cannot reflect a basic defect of LPI, as only two of the patients had values below the range of the controls, and five others actually had values above the mean of the controls. The leukocyte glutaminase activity had no apparent correlation to the subject's age or leukocyte count in either of the groups, to the severity of the manifestation of the disease, or to the duration of the arginine-HC1 treatment [9] of the patients.…”

Section: Lysinuric Protein Intolerance 799mentioning

confidence: 91%

“…Eleven of them have been reported earlier [8,9,17]. The remaining six have typical plasma and urinary amino acid patterns and show the clinical and test findings characteristic of LPI.…”

Section: Patientsmentioning

confidence: 95%

“…5) 5-year-old boy with portal hypertension of unknown cause, normal liver histology. 4) 15-year-old boy suffering from progressive myoclonus epilepsy, with characteristic cellular inclusion bodies in the liver, and hyperammonemic response to iv L-alanine load [9], 5) 2-month-old infant with pyloric stenosis. 6) 58-year-old woman with stenosis of Oddi's sphincter.…”

Section: Discussionmentioning

confidence: 99%

“…Lysinuric protein intolerance is a disorder o£ amino acid and ammonia metabolism, characterized by failure to thrive, diarrhea, and vomiting in the infant fed cow's milk, and later by severe aversion to protein-rich food [8,9,17]. The patients show growth retardation, enlargement of the liver and often of the spleen, neutropenia and sometimes thrombocytopenia, and increased urinary excretion of the basic amino acids, particularly lysine.…”

Section: Introductionmentioning

confidence: 99%

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Leukocyte and Liver Glutaminase in Lysinuric Protein Intolerance

1972

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ExtractLeukocyte glutaminase / activity was studied in 17 patients with lysinuric protein intolerance (LPI, familial protein intolerance) and 21 controls. The values were logarithmically distributed, the mean (95% confidence interval) being 9.1 (1.5-54.3) for the patients and 15.4 (2.3-104.4) for the controls, in nanomoles of ammonia per 10 6 leukocytes and 30 min. The difference is significant at P < 0.05. Only two of the LPI patients had a value below the range of the controls, and five others actually had a value above the mean of the controls.Liver glutaminase / activity was measured in two of the LPI patients and in seven controls. The activity found in the patients was clearly higher than in the controls. We have disproved the speculation of a deficiency of liver glutaminase in LPI, as a basic derangement in LPI, common to botr basic chemical disturbances of LPI, the renal leakage of basic amino acids and the delayed urea synthesis. Speculation

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Section: Lysinuric Protein Intolerance 799mentioning

confidence: 91%

“…Eleven of them have been reported earlier [8,9,17]. The remaining six have typical plasma and urinary amino acid patterns and show the clinical and test findings characteristic of LPI.…”

Section: Patientsmentioning

confidence: 95%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Leukocyte and Liver Glutaminase in Lysinuric Protein Intolerance

1972

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“…Liver was obtained at laparotomy from five control subjects and three patients (patient 6, 16 years; patient 7, 21 years, and patient 9, 6 years) (12,28). The control subjects underwent operations for ventricular carcinoma (age 22 years), pyloric stenosis (54 years), duodenal ulcer (59 years), Meckel's diverticulum (42 years), and hamartoma of the liver (3 weeks).…”

Section: Subjects Studiedmentioning

confidence: 99%

Diamino Acid Transport into Granulocytes and Liver Slices of Patients with Lysinuric Protein Intolerance

Simell

1975

Pediatr Res

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A m i n o acid t r a n s p o r t liver d i a m i n o acids urea cycle ExtractThe amounts of 14C-labeled lysine, arginine, and ornithine taken up by isolated granulocytes of 11 patients with lysinuric protein intolerance ( L P I ) and of 16 control subjects were measured. Transport against a concentration gradient was evident in all. The initial 5-min uptake was measured in a series of substrate concentrations varying from 0.025-4.0 mM. One transport system was seemingly present for all three amino acids. The rates of transport into the granulocytes in the patients and control subjects were comparable. The V,,,, in millimoles x kilogram of cell w a t e r ' x 5 min-l, ranged only from 0.30-0.38 in the patients and from 0.32-0.34 in the control subjects. The K, values were 0.06 apd 0.06 m M for lysine, 0.05 and 0.06 for arginine, and 0.10 and 0.09 m M for ornithine in the patients and control subjects, respectively.The transport of the nonmetabolizable diamino acid analog, homoarginine, into liver slices of three patients and five control subjects was also studied. There was no clear difference in the time course of uptake a t 0.05 m M homoarginine concentration in the medium. In kinetic studies of two patients and three control subjects, a t least two transport systems were evident. The "large capacity, low affinity" system had V,,, of 0.43 and 3.08 mmol x kg cell water-x 15 min-I and K, of 0.18 and 2.49 m M in the patients and control subjects, respectively. The "small capacity, high affinity" system had V,,, of 0.07 and 0.14 mmol x kg cell waterx 15 m i n 1 and K, of 0.03 and 0.05 mM, respectively. The V,,, of the large capacity, low affinity system in the patients was only 1/7 of that in the control subjects, showing clearly impaired diamino acid uptake by the liver cells in LPI.

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Hyperornithinemia, Hyperammonemia, and Homocitrullinuria

Shih¹

1969

Am J Dis Child

155

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Familial Protein Intolerance with Deficient Transport of Basic Amino Acids: An Analysis of 10 Patients

Cited by 70 publications

References 23 publications

Leukocyte and Liver Glutaminase in Lysinuric Protein Intolerance

Leukocyte and Liver Glutaminase in Lysinuric Protein Intolerance

Diamino Acid Transport into Granulocytes and Liver Slices of Patients with Lysinuric Protein Intolerance

Hyperornithinemia, Hyperammonemia, and Homocitrullinuria

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