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de Koning T J - - 2006
Serine deficiency disorders are rare defects in the biosynthesis of the amino acid L-serine. At present two disorders have been reported: 3-phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency. These enzyme defects lead to severe neurological symptoms such as congenital microcephaly and severe psychomotor retardation and in addition in patients with ...
Labarthe François - - 2006
The mitochondrial trifunctional protein (MTP) catalyzes the last three steps in the long-chain fatty acid beta-oxidation pathway. We report herein a patient with an inherited MTP deficiency and hypoparathyroidism that were both revealed at 4 months of age. Although parathyroid function appeared to be normalized following nutritional management of the ...
Sass Jorn Oliver - - 2006
N-terminal acetylation of proteins is a widespread and highly conserved process. Aminoacylase 1 (ACY1; EC 3.5.14) is the most abundant of the aminoacylases, a class of enzymes involved in hydrolysis of N-acetylated proteins. Here, we present four children with genetic deficiency of ACY1. They were identified through organic acid analyses ...
Bai Cheng - - 2006
The existence of nickel (Ni) deficiency is becoming increasingly apparent in crops, especially for ureide-transporting woody perennials, but its physiological role is poorly understood. We evaluated the concentrations of ureides, amino acids, and organic acids in photosynthetic foliar tissue from Ni-sufficient (Ni-S) versus Ni-deficient (Ni-D) pecan (Carya illinoinensis [Wangenh.] K. ...
Douglas A E - - 2006
The incidence of phloem sap feeding by animals appears paradoxical. Although phloem sap is nutrient-rich compared with many other plant products and generally lacking in toxins and feeding deterrents, it is consumed as the dominant or sole diet by a very restricted range of animals, exclusively insects of the order ...
Vutskits Laszlo - - 2006
Aromatic l-amino acid decarboxylase (AADC) deficiency is characterized by an almost complete absence of sympathetic autoregulation, because of very low levels of circulating catecholamines. Here, we report the successful management of four consecutive anesthesia procedures in a young child presenting with AADC deficiency. Our experience suggests that, with appropriate anticipation ...
Gordon Neil - - 2006
Glutaric aciduria type I is an autosomal recessive disorder resulting from a deficiency of glutaryl-CoA dehydrogenase. This leads to an accumulation of glutaric and 3-hydroxyglutaric acids and secondary carnitine deficiency. The symptomatology is discussed, especially those resulting from lesions in the basal ganglia, and the encephalopathic episodes which are often ...
Boissier Fanny - - 2006
Mycolic acids are major and specific components of the cell envelope of Mycobacteria that include Mycobacterium tuberculosis, the causative agent of tuberculosis. Their metabolism is the target of the most efficient antitubercular drug currently used in therapy, and the enzymes that are involved in the production of mycolic acids represent ...
Ovide-Bordeaux Stéphanie - - 2005
The present study investigated the ability of trimetazidine (TMZ) to maintain cardiac mitochondrial function during the development of insulin deficiency and hyperinsulinaemia. The anti-ischaemic drug TMZ is known to increase phospholipid synthesis in cardiac membranes and to have a cardioprotective effect. Insulin deficiency was obtained by streptozotocin injection and hyperinsulinaemia ...
Glew Robert S - - 2005
Non-cereal plant foods in the Western Sahel of Africa contribute significantly to the diets of local residents, especially during periods of grain shortages. In this paper, we analyze four such plant foods including diyan kwakwa (nut of coconut palm, Cocos nucifera L.), muricin giginya (young shoot of Borassus aethiopum), tsamiya ...
Abdenur Jose E - - 2006
Aromatic l-aminoacid decarboxylase (AADC) deficiency is a neurotransmitter defect leading to a combined deficiency of catecholamines and serotonin. Patients are usually detected in infancy due to developmental delay, hypotonia, and extrapyramidal movements. Diagnosis is based on an abnormal neurotransmitter metabolite profile in CSF and reduced AADC activity in plasma. An ...
Bhatt Apoorva - - 2005
Inhibition or inactivation of InhA, a fatty acid synthase II (FASII) enzyme, leads to mycobacterial cell lysis. To determine whether inactivation of other enzymes of the mycolic acid-synthesizing FASII complex also leads to lysis, we characterized the essentiality of two beta-ketoacyl-acyl carrier protein synthases, KasA and KasB, in Mycobacterium smegmatis. ...
Kim You Jeong - - 2005
We present here a case of acrodermatitis enteropathica-like eruption associated with essential free fatty acid and protein deficiencies as well as borderline zinc deficiency that occurred after Whipple's operation in a 31-yr-old woman. Her eruptions were improved not by zinc supplements alone, but her condition was improved by total parenteral ...
Barbon Christine M - - 2005
Acid sphingomyelinase deficiency is a lysosomal storage disorder in which the defective lysosomal hydrolase fails to degrade sphingomyelin. The resulting accumulation of substrate in the lysosomes of histiocytic cells leads to hepatosplenomegaly and severe pulmonary inflammation. Administration of a recombinant AAV1 vector encoding human acid sphingomyelinase to acid sphingomyelinase knockout ...
Li Yue - - 2005
Delta6 desaturase (D6D), the rate-limiting enzyme for highly unsaturated fatty acid (HUFA) synthesis, is induced by essential fatty acid-deficient diets. Sterol regulatory element-binding protein-1c (SREBP-1c) in part mediates this induction. Paradoxically, D6D is also induced by ligands of peroxisome proliferator-activated receptor alpha (PPARalpha). Here, we report a novel physiological role ...
Heird William C - - 2005
Studies of biochemical homeostasis and/or body growth have been included as outcome variables in most nutrition trials in paediatric patients. Moreover, these outcome variables have provided important insights into the nutrient requirements of infants and children, and continue to do so. Examples of the value of such studies in improving ...
Dijck-Brouwer D A Janneke - - 2005
Low status of long-chain polyunsaturated fatty acids (LCP) and essential fatty acids (EFA) in the fetus is associated with less favorable neonatal neurological condition. A 'relative', rather than 'absolute' EFA deficiency might explain this finding. A relative EFA deficiency may derive from impaired maternal glucose homeostasis. We measured fatty acids ...
Tolwani Ravi J - - 2005
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of mitochondrial fatty acid beta-oxidation in humans. To better understand the pathogenesis of this disease, we developed a mouse model for MCAD deficiency (MCAD-/-) by gene targeting in embryonic stem (ES) cells. The MCAD-/- mice developed an organic aciduria ...
Vermelin L - - 2005
Essential fatty acids (EFAs) play a significant role in bone metabolism. Herein we studied the adaptation of alveolar bone to physiologic tooth drift in young rats deprived of essential fatty acids from birth. Reductions in femur size and trabecular bone volume reflected body growth impairment. Along the alveolar wall, osteoclastic ...
Liu Gang - - 2005
OBJECTIVES: The purpose of this study was to investigate the effect of various amino acids and their metabolites on the activities of prolidase I and II from human erythrocytes compared to those in a patient with prolidase deficiency. DESIGN AND METHODS: Prolidase I and II from human erythrocytes were purified ...
Peretti N - - 2005
Transport mechanisms, whereby alimentary lipids are digested and packaged into small emulsion particles that enter intestinal cells to be translocated to the plasma in the form of chylomicrons, are impaired in cystic fibrosis. The purpose of this paper is to focus on defects that are related to intraluminal and intracellular ...
Topham E J - - 2005
We present a patient with a desquamating predominantly flexural erythema and glossitis due to a combination of alcoholism, zinc deficiency and amino acid deficiency. A similar clinical picture to necrolytic migratory erythema can be seen with zinc deficiency or protein malnutrition, often in patients with alcoholic liver disease, in the ...
McCowen Karen C - - 2005
PURPOSE OF REVIEW: This review will address recent research in metabolism of essential fatty acids and their long chain derivatives. Our main focus will be the association between essential fatty acid status and various disease states, as well as the effects of supplementation with essential fatty acids or their derivatives ...
Watanabe Toshiaki - - 2005
We developed an assay for measuring urinary 3-hydroxyisovaleric acid (3-HIA) using HPLC after derivatization with 2-nitrophenylhydrazine hydrochloride (2-NPH . HCl). The derivatized 3-HIA was extracted into n-hexane and separated isocratically on a C8 reversed-phase column for fatty acids (YMC-Pack FA). We used this method to measure 3-HIA in urine extracts ...
Schraut Daniela - - 2005
Radial water (J(V)) and abscisic acid (ABA) flows (J(ABA)) through maize root seedlings have been investigated under different conditions of nutrient deficiency. Whereas J(V) was reduced under nitrogen deficiency, potassium deficiency stimulated J(V). A substantial increase of J(ABA) was observed in roots kept under potassium deficiency. The observed changes of ...
van den Brink D M - - 2005
Sjögren-Larsson syndrome (SLS) is a metabolic disorder characterized by ichthyosis, mental retardation and spastic diplegia or tetraplegia. The biochemical defect has been identified as a deficiency of fatty aldehyde dehydrogenase (FALDH), which is part of an enzyme complex that converts fatty alcohols into fatty acids. Making use of the finding ...
Arbatova Jelena - - 2005
PURPOSE: To evaluate the levels of tryptophan and its metabolites along serotonin (5-HT) and kynurenine (KYN) pathways in serum of progressive myoclonus epilepsy (EPM1) patients and cystatin B (CSTB)-deficient mice, a model system for EPM1. METHODS: Tryptophan and its metabolites along serotonin (5-HT) and KYN pathways were determined in serum ...
Reis de Assis Dênis - - 2004
Patients affected by medium-chain acyl CoA dehydrogenase (MCAD) deficiency, a frequent inborn error of metabolism, suffer from acute episodes of encephalopathy. However, the mechanisms underlying the neuropathology of this disease are poorly known. In the present study, we investigated the in vitro effect of the medium-chain fatty acids (MCFA), at ...
Bischof Felix - - 2004
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency is a disorder of leucine metabolism that usually presents with recurrent episodes of life-threatening hypoglycemia during early childhood. We report on a 36-year-old woman with seizures, recurrent metabolic disturbances, and severe leukoencephalopathy. The diagnosis was made by analysis of amino acids in urine and serum and was ...
Das Undurti N - - 2004
Huntington's disease is an inherited neurodegenerative disorder due to a mutation in exon 1 of the Huntingtin gene that encodes a stretch of polyglutamine (polyQ) residues close to the N-terminus of the huntingtin protein. Aggregated polyQ residues are highly toxic to the neuronal cells when they enter the cell nucleus. ...
Koehnle Thomas J - - 2004
Diets deficient in an indispensable amino acid have long been known to suppress food intake in rats. Detection of dietary deficiency takes place in the anterior piriform cortex (APC). Recent studies showed that the response to amino acid deficiency takes as little as 15 min to develop, but few data ...
Paddon-Jones Douglas - - 2004
We determined whether essential amino acid and carbohydrate supplementation could offset the catabolic response to prolonged inactivity. Major outcome measures included mixed muscle fractional synthetic rate (FSR), phenylalanine net balance, lean leg mass, and leg extension strength. On d 1 and 28, vastus lateralis muscle biopsies and femoral arterio-venous blood ...
Karnik D - - 2004
Two cases of hyperammonemia with elevated citrulline are reported, one resulting from a deficiency of pyruvate carboxylase and the other from a partial deficiency of argininosuccinate synthetase. Diagnosis was based on clinical, biochemical and amino acid profiles. The utility of amino acid determinations in hyperammonemia suspected to underlie an inborn ...
Berger Paul S - - 2004
Long-chain acyl-CoA dehydrogenase (LCAD) deficiency has not been found in human patients. There has been an LCAD deficient (LCAD-/-) mouse model developed via gene targeting strategies that has gestational loss as a part of its phenotype. We tested the hypothesis that LCAD deficiency disrupts normal embryonic development and explains at ...
Wu J G - - 2004
It is necessary for rice breeders to understand the genetic basis of nutrient quality traits of rice. Essential amino acids are most important in determining the nutrient quality of rice grain and can affect the health of people who depend on rice as a staple food. In view of the ...
Di Giulio A M - - 2004
OBJECTIVES: Assessment of maternal plasma amino acids during normal gestation and in early stages of intrauterine growth restriction (IUGR). STUDY DESIGN: Plasma amino acid concentrations were measured in: (1) non-pregnant women (n=7); (2) normal pregnant women in the first (n=13), second (n=17) and third (n=12) trimester; and (3) pregnant women ...
Washizu Tsukimi - - 2004
An 18 month-old, intact female American Shorthair cat was presented for evaluation of stunted growth and postprandial depression. Fasting serum ammonia and serum bile acid concentrations were above reference ranges at 396 microg/dl and 6.5 micromol/ l and their postprandial concentrations were 785 microg/dl and 9.5 micromol/l, respectively. The initial ...
Richardson A J - - 2004
Considerable clinical and experimental evidence now supports the idea that deficiencies or imbalances in certain highly unsaturated fatty acids may contribute to a range of common developmental disorders including ADHD, dyslexia, dyspraxia and autistic spectrum disorders (ASD). Definitive evidence of a causal contribution, however, can only come from intervention studies ...
Scholljegerdes E J - - 2004
Eight Angus x Gelbvieh heifers (445 +/- 74.5 kg) fitted with ruminal and duodenal cannulas were used in a 4 x 4 Latin square double double-crossover designed experiment to assess the effect of restricted forage intake on site and extent of digestion and flow of essential AA amino acids to ...
Nanamori Masahito - - 2004
The Brachiaria hybrid cv. Mulato is well adapted to low-fertility acid soils deficient in phosphorus (P). To study the grassy forage's mechanisms for tolerating low P supply, we compared it with rice (Oryza sativa L. cv. Kitaake). We tested by using nutrient solution cultures, and quantified the effects of P ...
Puri B K - - 2004
There is evidence that there is an association between chronic fatigue syndrome, a condition of unknown aetiology, and essential fatty acids. This evidence is based on the actions of essential fatty acids, the results of proton neurospectroscopy studies, and essential fatty acid trial data. A series of patients with chronic ...
Puri B K - - 2004
Lateral ventricular enlargement has been reported in chronic fatigue syndrome, while cerebral neurospectroscopy has recently indicated that essential fatty acid treatment may be of value in this condition. An essential fatty acid supplement rich in eicosapentaenoic acid (EPA) was therefore given daily to a female patient with a 6-year history ...
- - 2004
(1) Previously, phenylbutyrate sodium was the only product marketed in France for the treatment of diseases caused by enzyme deficiencies affecting the urea cycle. By a non specific action, this drug partially prevents episodes of hyperammonaemia and their potentially severe consequences. (2) Marketing authorization has now been granted, through the ...
Keshavarz K - - 2004
Two experiments were conducted to determine whether, by using a low-protein, amino acid-supplemented diet or a low-protein, amino acid-supplemented diet in conjunction with low-P, phytase-supplemented diet, the excretion of N and P could be reduced without affecting the productive performance of laying hens. Eight dietary treatments were assigned to Babcock ...
Chambrier Cécile - - 2004
BACKGROUND: In long-term parenteral nutrition (LTPN) patients, the use of a 50:50 mixture of medium- and long-chain triglyceride emulsion (MCT/LCT) has been suggested to prevent or correct fatty liver infiltration. However, the use of MCT/LCT lipid emulsion results in a 50% reduction of essential fatty acids and vitamin K1 supply ...
Wu Jian Guo - - 2004
Genetic main effects and genotype x environment (GE) interaction effects for 7 non-essential amino acids in milled rice were analyzed for two year data by using the genetic models based on mixed linear model approaches for quantitative traits of triploid endosperm. Nine cytoplasmic, male sterile lines as females and five ...
Koeller D M - - 2004
In vitro studies suggest that excitotoxic cell damage is an underlying mechanism for the acute striatal damage in glutaryl-CoA dehydrogenase (GCDH) deficiency. It is believed to result from an imbalance of glutamatergic and GABAergic neurotransmission induced by the accumulating organic acids 3-hydroxyglutaric acid (3-OH-GA) and to a lesser extent glutaric ...
O'Brien Diane M - - 2003
Heliconius and Laparus butterflies exhibit a unique pollen-collecting behaviour that enhances lifespan and fecundity. The specific nutritional contribution of pollen, however, had not been previously demonstrated. We used stable isotope variation to trace the carbon flow into eggs from corn pollen provided experimentally to ovipositing female Heliconius charitonia, and to ...
Rao Satish P Ramachandra - - 2003
In order that malaria be successfully contained, it is important that one has a clear understanding of the normal physiology and biochemistry of the parasite essential to its survival in its human host. Until very recently, the conventional approaches to antimalarial chemotherapy have consistently been plagued with the uncanny ability ...
Watkins Steven M - - 2003
Phosphatidylethanolamine-N-methyltransferase (PEMT) catalyzes the methylation of phosphatidylethanolamine to form phosphatidylcholine (PC) and represents one of the two major pathways for PC biosynthesis. Mice with a homozygous disruption of the PEMT gene are dependent on the 1,2-diacylglycerol cholinephosphotransferase (CDP-choline) pathway for the synthesis of PC and develop severe liver steatosis when ...
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