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1.
J Inherit Metab Dis ; 31 Suppl 2: S323-8, 2008 Dec.
Article in English | MEDLINE | ID: mdl-19052914

ABSTRACT

UNLABELLED: We report the CSF and plasma amino acid concentrations and their ratios in a male patient with arginase1 deficiency with an unusual early presentation at 34 days of age. He developed hyperammonaemic coma (ammonia >400 µmol/L; normal <90 µmol/L) on postnatal day 35. CSF and plasma concentrations were assayed by ion-exchange chromatography on day 36. Arginine was increased both in plasma (971 µmol/L; controls (mean ± 2SD) 50 ± 42) and in CSF (157 µmol/L; controls 19 ± 8.6), resulting in a normal CSF/plasma ratio of 0.16 (controls 0.41 ± 0.26). Interestingly, glutamine was disproportionately high in CSF (3114 µmol/L; controls 470 ± 236) but normal in plasma (420 µmol/L; controls 627 ± 246); the ratio exceeded unity (7.4; controls 0.76 ± 0.31). The CSF/plasma ratios of most neutral amino acids were elevated but not those of the imino- and of the dibasic amino acids lysine and ornithine. The mechanism leading to the increase of most neutral amino acids in brain is not known. CONCLUSION: A normal glutamine in plasma does not exclude an increased concentration in CSF; it could be useful to ascertain by MRS that a high CSF glutamine concentration truly reflects a high concentration in brain tissue for better understanding its pathogenesis.


Subject(s)
Amino Acids/blood , Amino Acids/cerebrospinal fluid , Ammonia/blood , Coma/etiology , Hyperammonemia/etiology , Hyperargininemia/complications , Adult , Arginine/blood , Arginine/cerebrospinal fluid , Biomarkers/blood , Biomarkers/cerebrospinal fluid , Chromatography, Ion Exchange , Coma/blood , Coma/cerebrospinal fluid , Glutamine/blood , Glutamine/cerebrospinal fluid , Humans , Hyperammonemia/blood , Hyperammonemia/cerebrospinal fluid , Hyperargininemia/blood , Hyperargininemia/cerebrospinal fluid , Lysine/blood , Lysine/cerebrospinal fluid , Male , Ornithine/blood , Ornithine/cerebrospinal fluid
2.
Neuropediatrics ; 39(3): 164-71, 2008 Jun.
Article in English | MEDLINE | ID: mdl-18991196

ABSTRACT

To evaluate the possible role of central free amino compounds in pediatric opsoclonus-myoclonus syndrome (OMS), 21 cerebrospinal fluid (CSF) amino compounds were measured by an amino acid analyzer or mass spectroscopy in 74 anesthetized children, 54 with OMS and 20 age-matched neurological controls. In OMS, only phosphoethanolamine was increased compared to controls; OMS severity and duration had significant converse effects on alanine and phosphoethanolamine. In contrast, corticotropin (ACTH) treatment was associated with increased alanine and phenylalanine, and decreased taurine compared to controls and untreated OMS, and increased glutamine, lysine, ornithine, and tyrosine compared to untreated OMS. Other than low taurine, these effects were not found with corticosteroid treatment, and non-steroidogenic immunotherapy had no effect. The ACTH dose-association was most apparent for alanine and phosphoethanolamine, but lysine and ornithine were also higher in the high-dose ACTH group. There were no significant disease- or treatment-associated perturbations in GABA, glycine, or other amino acids. These data suggest a unique pattern of ACTH effects on non-neurotransmitter CSF amino compounds, for the most part not shared by steroids.


Subject(s)
Adrenocorticotropic Hormone/therapeutic use , Amino Acids/cerebrospinal fluid , Immunotherapy/methods , Opsoclonus-Myoclonus Syndrome/drug therapy , Adrenocorticotropic Hormone/pharmacology , Alanine/cerebrospinal fluid , Alanine/metabolism , Amino Acids/metabolism , Analysis of Variance , Child , Child, Preschool , Chromatography, Gas/methods , Corticosterone/pharmacology , Corticosterone/therapeutic use , Dose-Response Relationship, Drug , Female , Glutamine/cerebrospinal fluid , Glutamine/metabolism , Humans , Lysine/cerebrospinal fluid , Lysine/metabolism , Male , Mass Spectrometry/methods , Opsoclonus-Myoclonus Syndrome/cerebrospinal fluid , Opsoclonus-Myoclonus Syndrome/metabolism , Ornithine/cerebrospinal fluid , Ornithine/metabolism , Phenylalanine/cerebrospinal fluid , Phenylalanine/metabolism , Severity of Illness Index , Taurine/cerebrospinal fluid , Taurine/metabolism , Tyrosine/cerebrospinal fluid , Tyrosine/metabolism
3.
Nutrition ; 13(9): 788-94, 1997 Sep.
Article in English | MEDLINE | ID: mdl-9290092

ABSTRACT

Polyamines (PA) are ubiquitous cell components essential for growth. Dietary PAs are directed preferentially to tissues and organs that have been stimulated to grow by metabolic signals. Nutritional efficacy and growth potential of an oral PA supplement, spermidine (SD), was examined in growing rats. A group of 24-male Sprague-Dawley rats (200-220 g) was adapted to our vivarium conditions for 3 d, then fed ad libitum continuously for 14 d. During feeding they received either a basal diet (n = 8) or a test diet containing the basal diet with 0.05% SD (test diet 1, n = 8) or 0.10% SD (test diet 2, n = 8). This dose of SD corresponds to an intake of 54 and 108 mumol of SD per rat per day. At the end of 14 d of feeding, the animals were sacrificed and plasma, cerebral spinal fluid (CSF) and tissues (muscle, brain, and liver) were harvested for amino acid analysis. Voluntary food intake, body weight gain, and nitrogen excretion and balance were significantly decreased in test diet 2 fed rats compared to test diet 1. The opposing trends in the accumulation/depletion of free amino acids (AA) in muscle and plasma suggests that the exogenous supply of SD blocks the transport of amino acids, as well as PAs from the cells, since AA and PA share the same transport systems. A trend toward decreased weight gain and feeding efficiency was observed when high concentrations of SD were fed. It was concluded that feeding of SD at moderate intake is not toxic and does not retard growth. Oral administration of a smaller dose (<0.05%) of SD may promote further growth. The optimal level of SD dietary supplementation has thus yet to be established.


Subject(s)
Animal Nutritional Physiological Phenomena , Growth/drug effects , Spermidine/pharmacology , Amino Acids/analysis , Amino Acids/blood , Amino Acids/cerebrospinal fluid , Animals , Body Weight/drug effects , Body Weight/physiology , Brain Chemistry , Dietary Supplements , Eating/physiology , Glutamine/analysis , Glutamine/blood , Glutamine/cerebrospinal fluid , Growth/physiology , Liver/chemistry , Liver/metabolism , Male , Muscle, Skeletal/chemistry , Nitrogen/metabolism , Ornithine/analysis , Ornithine/blood , Ornithine/cerebrospinal fluid , Polyamines/metabolism , Rats , Rats, Sprague-Dawley , Spermidine/metabolism
4.
J Chromatogr B Biomed Appl ; 657(1): 185-91, 1994 Jul 01.
Article in English | MEDLINE | ID: mdl-7952066

ABSTRACT

The quantitation of 16 acidic, basic, small and large neutral amino acids was performed using 10-microliters sample aliquots of cisternal cerebrospinal fluid (CSF) and blood plasma of rats. The analytical technique is based upon a two-buffer HPLC system with fluorimetric detection of pre-column derivatized primary amino acids with o-phthaldialdehyde (OPA). A modification of a well established method, the power of the present technique comes from an improved resolution and sensitivity by installing a column heater adjusted to 43 degrees C and strictly reducing any contamination by background amino acids. The analysis is simplified by separating the amino acid derivatives with a linear buffer gradient and less time consuming by the use of a short analytical column with a higher flow-rate. Analytical precision, linearity of response and reproducibility were highly acceptable at both CSF and plasma concentrations of amino acids without changing any of the separation or detection parameters.


Subject(s)
Amino Acids/blood , Amino Acids/cerebrospinal fluid , Chromatography, High Pressure Liquid/methods , Animals , Aspartic Acid/blood , Aspartic Acid/cerebrospinal fluid , Buffers , Chromatography, High Pressure Liquid/statistics & numerical data , Female , Glutamine/blood , Glutamine/cerebrospinal fluid , Isoleucine/blood , Isoleucine/cerebrospinal fluid , Male , Ornithine/blood , Ornithine/cerebrospinal fluid , Rats , Rats, Wistar , Sensitivity and Specificity , Temperature , o-Phthalaldehyde
5.
Brain Dev ; 12(5): 533-5, 1990.
Article in English | MEDLINE | ID: mdl-2288388

ABSTRACT

The HHH syndrome (hyperornithinemia associated with hyperammonemia and homocitrullinuria) is characterized by a very rare genetic defect of ornithine transport in mitochondrial membrane. We first demonstrated that a patient with HHH syndrome excreted about 6 times higher amount of polyamines in urine than the control when supplemented with high protein diets and ornithine loading. Each urinary polyamine fraction measured by HPLC method in HHH syndrome appears to be increased, as compared with those of the control. These data suggest that increased urinary excretion of polyamines in this syndrome is closely related to overflowing of plasma polyamine due to an ornithine transport defect in the mitochondrial membrane.


Subject(s)
Amino Acid Metabolism, Inborn Errors/urine , Ammonia/blood , Biogenic Polyamines/urine , Citrulline/urine , Ornithine/blood , Adolescent , Amino Acids/blood , Amino Acids/cerebrospinal fluid , Amino Acids/urine , Diet , Humans , Male , Ornithine/cerebrospinal fluid , Syndrome
6.
Neurosci Lett ; 75(1): 85-8, 1987 Mar 20.
Article in English | MEDLINE | ID: mdl-2883612

ABSTRACT

The concentrations of gamma-aminobutyric acid (GABA) and its metabolic precursors glutamate (Glu) and ornithine (Orn) were measured in cerebrospinal fluid (CSF) samples obtained from the cisterna magna of freely moving lactating rats on: postpartum day 5 when the rats were with their pups, day 6, 6 h after removal of the pups, and day 7, 24 h after mother-pup reunion. The concentration of GABA was non-detectable in the absence of pups (condition 2) but forty-fold above the limit of detection whenever the rats and the pups were together (conditions 1 and 3). Glu and Orn were low in but increased in and still more so in. Thus, the CSF concentration of GABA, an inhibitory neurotransmitter which profoundly influences behavior and hormone secretion is markedly increased by the pup-related stimuli, which control the behavior and the endocrine secretions of the lactating rat.


Subject(s)
Lactation/cerebrospinal fluid , gamma-Aminobutyric Acid/cerebrospinal fluid , Animals , Animals, Suckling , Female , Glutamates/cerebrospinal fluid , Glutamic Acid , Maternal Behavior , Ornithine/cerebrospinal fluid , Pregnancy , Rats , Rats, Inbred Strains , Synaptic Transmission
7.
Cancer Chemother Pharmacol ; 13(3): 200-5, 1984.
Article in English | MEDLINE | ID: mdl-6435895

ABSTRACT

We have developed a beagle dog model to study the pharmacology and toxicology of anticancer drugs administered through the 3rd or lateral ventricles. A Foltz-type reservoir was implanted SC and connected by tube into a cerebral ventricle. Drugs were administered directly into the reservoir; CSF sampling of drugs administered into the ventricle was achieved directly by tapping the reservoir or by percutaneous puncture of the cisterna magna. In the current study, we evaluated the CSF pharmacokinetics and CNS toxicity of two inhibitors of polyamine metabolism, alpha-difluoromethylornitine (DFMO) and methylglyoxal bisguanylhydrazone (MGBG). Both drugs were judged too toxic to justify intrathecal or intraventricular studies with these agents in patients.


Subject(s)
Antimetabolites, Antineoplastic/cerebrospinal fluid , Guanidines/toxicity , Mitoguazone/toxicity , Ornithine/analogs & derivatives , Animals , Cerebral Ventricles/drug effects , Dogs , Eflornithine , Injections, Intraventricular , Male , Metabolic Clearance Rate , Mitoguazone/administration & dosage , Mitoguazone/cerebrospinal fluid , Ornithine/administration & dosage , Ornithine/cerebrospinal fluid , Ornithine/toxicity
8.
Trans Am Ophthalmol Soc ; 73: 153-71, 1975.
Article in English | MEDLINE | ID: mdl-1246803

ABSTRACT

A case of gyrate atrophy of the choroid and retina associated with hyperornithinemia has been subjected to extensive clinical and biochemical investigation. The familial occurrence of the ocular disease and of abnormality of amino acid was unique to this 28-year-old male, being absent in parents and siblings. He presented with progressive visual loss, and was found to have cataracts and large areas of peripheral lacunar atrophy. Clinically there was no other abnormality. However, he was hyperuricemic and has an abnormal EEG. Despite otherwise normal biochemical indices of hepatic, renal, and muscle function; selective catheterization of an artery, the hepatic vein, the renal vein, and a deep forearm vein showed all of these circulatory beds to be producing ornithine according to arteriovenous difference measurements. Cerebrospinal fluid and urine contained increased amounts of ornithine. Though electromyography was normal, the muscle biopsy was abnormal. Clinical tests including arginine loading, glucose tolerance testing, and other measurements of blood variables provided inferences as to the metabolic locus of the abnormality. The syndrome is a systemic multiorgan disorder in which the choroid and retina would appear to be target organs and the hyperornithinemia to be of, as yet, undetermined cause and pathogenic significance.


Subject(s)
Amino Acid Metabolism, Inborn Errors , Choroid , Ornithine , Retinal Diseases , Adult , Alanine/blood , Arginine/blood , Atrophy , Cataract/metabolism , Cataract/pathology , Choroid/pathology , Histidine/blood , Humans , Male , Muscles/pathology , Muscular Atrophy/metabolism , Muscular Atrophy/pathology , Ornithine/blood , Ornithine/cerebrospinal fluid , Retinal Diseases/metabolism , Retinal Diseases/pathology , Retinal Vessels/pathology , Uveal Diseases/metabolism , Visual Fields
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