The role of oxidative damage in the neuropathology of organic acidurias: insights from animal studies.

abstract：:There is now strong evidence for the implication of collagen alpha 1(I), alpha 2(I) and alpha 1(III) mutations in many forms of osteogenesis imperfecta and inherited arterial aneurysms (Ehlers Danlos syndrome type IV). A sizeable proportion of these disorders have detectable abnormalities by conventional protein chemi...

journal_title：Journal of inherited metabolic disease

authors： Pope FM,Daw SC,Narcisi P,Richards AR,Nicholls AC

更新日期：1989-01-01 00:00:00

abstract：:Achieving the goals of newborn screening is, as for any screening, a balancing act: getting the maximum benefit from screening while producing the minimum harm. The advent of "expanded" newborn screening, with a large number of disorders detectable using a single test, has also posed problems, not new, but now more ob...

journal_title：Journal of inherited metabolic disease

authors： Wilcken B

更新日期：2010-10-01 00:00:00

abstract：:Optimum conditions for assay of human plasma beta-mannosidase activity were determined. Maximum activity was observed at pH 3.0-3.4, the apparent Km was 0.9 mmol L-1 and enzymatic hydrolysis was linear for at least 60 min. Assays were performed on plasma from two siblings with the recently described condition beta-man...

journal_title：Journal of inherited metabolic disease

authors： Cooper A,Hatton C,Sardharwalla IB

更新日期：1987-01-01 00:00:00

abstract：:A severely mentally retarded infant with congenital lactic acidosis due to pyruvate carboxylase deficiency is reported. The patient suffered from vomiting and convulsions soon after birth and developed severe mental and motor retardation at 3 months of age. The persistent elevation of pyruvate and lactate in both bloo...

journal_title：Journal of inherited metabolic disease

authors： Tsuchiyama A,Oyanagi K,Hirano S,Tachi N,Sogawa H,Wagatsuma K,Nakao T,Tsugawa S,Kawamura Y

更新日期：1983-01-01 00:00:00

abstract：:Glutaric aciduria type I is an inborn error of organic acid metabolism that demonstrates a particular temporal vulnerability (acute encephalopathic episodes in infancy) and a spatial vulnerability (acute striatal necrosis, focused on the putamen). Excitotoxic mechanisms involving 3-hydroxyglutaric acid as the major ne...

journal_title：Journal of inherited metabolic disease

authors： Varadkar S,Surtees R

更新日期：2004-01-01 00:00:00

abstract：:Untreated pregnancies and their outcomes were studied in 10 women with histidinaemia and their 26 pregnancies. The mean maternal assigned histidine level was 727+/-186 micromol/L (range 484-1,053). Six women had classic histidinaemia (assigned level >700 micromol/L) and the remaining four had mild (atypical) histidina...

journal_title：Journal of inherited metabolic disease

authors： Levy HL,Yu JJ,Waisbren SE

更新日期：2004-01-01 00:00:00

abstract：:The neonatal presentation of congenital adrenal hyperplasia is either virilization of females or salt loss in both sexes. Early diagnosis is based on the rapid measurement of plasma 17 alpha-hydroxyprogesterone. Milder forms of congenital adrenal hyperplasia can present later in life with abnormalities of somatic or s...

journal_title：Journal of inherited metabolic disease

authors： Hughes IA

更新日期：1986-01-01 00:00:00

abstract：:The purpose of this review is to describe neurological phenotypes associated with lysosomal storage diseases (LSDs), focusing on features arising from primary neuronal involvement. Clinical presentation, progression and genetic data, are discussed in detail in Part 2, the electronic material. Main features are summari...

journal_title：Journal of inherited metabolic disease

authors： Jardim LB,Villanueva MM,de Souza CF,Netto CB

更新日期：2010-08-01 00:00:00

abstract：:This retrospective study in 20 untreated type I Gaucher disease patients shows that in Dutch patients clinical manifestations of Gaucher disease type I are progressive in the majority of patients, children as well as adults. This is in contrast with studies among Jewish patients. Our results emphasize the need for a r...

journal_title：Journal of inherited metabolic disease

authors： Maaswinkel-Mooij P,Hollak C,van Eysden-Plaisier M,Prins M,Aerts H,Pöll R

更新日期：2000-02-01 00:00:00

abstract：:Phosphatidylethanolamine plasmalogen levels were determined in erythrocytes from controls and 13 patients with the cerebro-hepato-renal (Zellweger) syndrome. It was found that in Zellweger patients 20 weeks of age or younger, erythrocyte phosphatidylethanolamine plasmalogen levels were lowered whereas in older patient...

journal_title：Journal of inherited metabolic disease

authors： Wanders RJ,Purvis YR,Heymans HS,Bakkeren JA,Parmentier GG,van Eldere J,Eyssen H,van den Bosch H,Tager JM,Schutgens RB

更新日期：1986-01-01 00:00:00

abstract：:Direct alteration of a gene in the human genome requires an understanding of the role of the gene in metabolism. A gene may need to be introduced into a specific tissue or alternatively it may be possible to use accessible tissue such as bone marrow. The level of gene expression required also needs to be known as does...

journal_title：Journal of inherited metabolic disease

authors： Smithies O

更新日期：1986-01-01 00:00:00

abstract：:2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (EC 1.1.1.178) deficiency is a recently described defect of isoleucine catabolism. The disorder is characterized by normal early development followed by a progressive loss of mental and motor skills. Deterioration may be rapid or may follow a slower decline with a possible s...

journal_title：Journal of inherited metabolic disease

authors： Olpin SE,Pollitt RJ,McMenamin J,Manning NJ,Besley G,Ruiter JP,Wanders RJ

更新日期：2002-10-01 00:00:00

abstract：INTRODUCTION:Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a congenital disorder of glycosylation. The original patients were described with hypotonia, developmental disability, epilepsy, and increased bleeding tendency. METHODS:Based on Euroglycan database registration, we approache...

journal_title：Journal of inherited metabolic disease

authors： Morava E,Tiemes V,Thiel C,Seta N,de Lonlay P,de Klerk H,Mulder M,Rubio-Gozalbo E,Visser G,van Hasselt P,Horovitz DDG,de Souza CFM,Schwartz IVD,Green A,Al-Owain M,Uziel G,Sigaudy S,Chabrol B,van Spronsen FJ,Steinert

更新日期：2016-09-01 00:00:00

abstract：:Hyperhomocysteinaemia is an independent risk factor for cardiovascular disease. The C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) is a common genetic cause of increased homocysteine (HCY) levels. Post-methionine-load HCY concentrations allow identification of certain cases of hyperhomocysteinaemia ...

journal_title：Journal of inherited metabolic disease

authors： Candito M,Bedoucha P,Gibelin P,Jambou D,de Franchis R,Sadoul JL,Chatel M,Van Obberghen E

更新日期：1999-06-01 00:00:00

abstract：:Electron micrographs of fibroblasts of an HHH-syndrome patient showed abnormal structures, similar, but not identical, to those observed in the liver of such patients. It is suggested that incorporation of a mutated protein into the inner mitochondrial membrane gives rise to a rearrangement of that membrane, resulting...

journal_title：Journal of inherited metabolic disease

authors： Metoki K,Hommes FA,Dyken P,Kelloes C,Trefz J

更新日期：1984-01-01 00:00:00

abstract：:It has been suggested that the very low incidence of atherosclerosis in glycogen storage disease type Ia (GSD Ia) subjects might be attributed to elevated levels of uric acid, one of the potent low molecular- weight antioxidants found in plasma. The present communication describes a use of two analytical methods-cycli...

journal_title：Journal of inherited metabolic disease

authors： Koren E,Lipkin J,Klar A,Hershkovitz E,Ginsburg I,Kohen R

更新日期：2009-10-01 00:00:00

abstract：:Garrod presented his concept of 'the inborn error of metabolism' in the 1908 Croonian Lectures to the Royal College of Physicians (London); he used albinism, alkaptonuria, cystinuria and pentosuria to illustrate. His lectures are perceived today as landmarks in the history of biochemistry, genetics and medicine. Garro...

journal_title：Journal of inherited metabolic disease

authors： Scriver CR

更新日期：2008-10-01 00:00:00

abstract：:In patients with cerebro-hepato-renal (Zellweger) syndrome, the absence of peroxisomes results in an impairment of metabolic processes in which peroxisomes are normally involved. These include the catabolism of very long chain (greater than C22) fatty acids, the biosynthesis of ether-phospholipids and of bile acids, t...

journal_title：Journal of inherited metabolic disease

authors： Schutgens RB,Wanders RJ,Heymans HS,Schram AW,Tager JM,Schrakamp G,van den Bosch H

更新日期：1987-01-01 00:00:00

abstract：:Mucolipidosis IV (ML IV) (McKusick 252650) is an autosomal recessive metabolic disorder that displays signs of both lipid and mucopolysaccharide (glycosaminoglycan) storage. It has been reported that fibroblasts from ML IV patients exhibit abnormally high synthesis of hyaluronic acid in culture. In our search for a bi...

journal_title：Journal of inherited metabolic disease

authors： Goldin E,Imai Y,Kaneski CR,Pentchev PG,Brady RO,Hascall VC

更新日期：1994-01-01 00:00:00

abstract：:Patients with Fabry disease frequently develop left ventricular (LV) hypertrophy and renal fibrosis. Due to heat intolerance and an inability to sweat, patients tend to avoid exposure to sunlight. We hypothesized that subsequent vitamin D deficiency may contribute to Fabry cardiomyopathy. This study investigated the v...

journal_title：Journal of inherited metabolic disease

authors： Drechsler C,Schmiedeke B,Niemann M,Schmiedeke D,Krämer J,Turkin I,Blouin K,Emmert A,Pilz S,Obermayer-Pietsch B,Weidemann F,Breunig F,Wanner C

更新日期：2014-03-01 00:00:00

abstract：:MicroRNAs (miRNAs) are short, noncoding RNAs that regulate gene expression posttranscriptionally by base pairing with target messenger RNAs (mRNAs). They are estimated to target ∼60% of all human protein-coding genes and are involved in regulating key physiological processes and intracellular signaling pathways. They ...

journal_title：Journal of inherited metabolic disease

authors： Rivera-Barahona A,Pérez B,Richard E,Desviat LR

更新日期：2017-07-01 00:00:00

abstract：:Molecular chaperones are present in the various compartments of the cell and assist the folding of newly synthesized proteins. Compared to wild-type proteins, missense mutant proteins are generally synthesized in a normal fashion, but may be impaired in their folding. A broad array of diseases that are due to misfoldi...

journal_title：Journal of inherited metabolic disease

authors： Gregersen N,Bross P,Andrese BS,Pedersen CB,Corydon TJ,Bolund L

更新日期：2001-04-01 00:00:00

abstract：:Cobalamin C (Cbl-C) defect is the most common inborn cobalamin metabolism error; it causes impaired conversion of dietary vitamin B12 into its two metabolically active forms, methylcobalamin and adenosylcobalamin. Cbl-C defect causes the accumulation of methylmalonic acid and homocysteine and decreased methionine synt...

journal_title：Journal of inherited metabolic disease

authors： Martinelli D,Deodato F,Dionisi-Vici C

更新日期：2011-02-01 00:00:00

abstract：:The very long chain fatty acids in cultured fibroblasts from six patients with the cerebro-hepato-renal syndrome of Zellweger, from six of their parents, from three controls, and also in three amniotic fluid control cell lines were analysed by gas chromatography. Increased concentrations of hexacosanoic acid (C26:O) w...

journal_title：Journal of inherited metabolic disease

authors： Govaerts L,Bakkeren J,Monnens L,Maas J,Trijbels F,Kleijer W

更新日期：1985-01-01 00:00:00

abstract：:Glycine encephalopathy, or nonketotic hyperglycinaemia (NKH; Mckusick 238300) is a severe autosomal recessive disease due to a defect in the glycine cleavage system (GCS), which is a complex of four subunits: P-, T-, H- and L-proteins. A P-protein (glycine decarboxylase or GLDC) deficiency was reported in about 80% of...

journal_title：Journal of inherited metabolic disease

authors： Conter C,Rolland MO,Cheillan D,Bonnet V,Maire I,Froissart R

更新日期：2006-02-01 00:00:00

abstract：:Hydroxyproline has the same integer molecular weight as leucine and isoleucine and is quantified with these by tandem mass spectrometry. An infant was diagnosed with hyperhydroxyprolinaemia following further evaluation of an elevated "leucine" level in newborn screening by tandem mass spectrometry. ...

journal_title：Journal of inherited metabolic disease

authors： Baykal T,Karaaslan I,Gokcay G,Demir F,Laleli Y,Demirkol M

更新日期：2004-01-01 00:00:00

abstract：:A new acylcarnitine was observed in the plasma and urine of a patient with isolated 3-methylcrotonyl-CoA carboxylase deficiency. Analysis by tandem mass spectrometry of the methyl ester and butyl ester and their fragment ion spectra identified it as a 3-hydroxy-C5-acylcarnitine. Fibroblasts from a second patient were ...

journal_title：Journal of inherited metabolic disease

authors： van Hove JL,Rutledge SL,Nada MA,Kahler SG,Millington DS

更新日期：1995-01-01 00:00:00

abstract：:Plasma total homocysteine (tHcy) determination is used in the diagnosis of homocystinuria, in cobalamin and folate deficiency and in cardiovascular risk assessment. However, determination of tHcy includes many pitfalls which complicate the assessment of homocysteine status. In the present article, we review basic know...

journal_title：Journal of inherited metabolic disease

authors： Refsum H,Fiskerstrand T,Guttormsen AB,Ueland PM

更新日期：1997-06-01 00:00:00

abstract：:A family of Maltese dogs with malonic aciduria is reported. The propositus presented at 3 years of age with episodes of seizures and stupor with hypoglycaemia, acidosis, and ketonuria. Urinary organic acid assays showed elevated malonic acid without elevation of methylmalonic acid. Cultured fibroblasts had normal malo...

journal_title：Journal of inherited metabolic disease

authors： O'Brien DP,Barshop BA,Faunt KK,Johnson GC,Gibson KM,Shelton GD

更新日期：1999-12-01 00:00:00

abstract：:We report D-2-hydroxyglutaric aciduria in a neonate with intracranial haemorrhage and absence of the corpus callosum. D-2-hydroxyglutaric acid was confirmed by specific chiral derivatization gas chromatography-mass spectrometry. Absence of the corpus callosum and spontaneous neonatal intracranial haemorrhage should ra...

journal_title：Journal of inherited metabolic disease

authors： Wang X,Jakobs C,Bawle EV

更新日期：2003-01-01 00:00:00