Glycosaminoglycan metabolism defects and atherosclerosis: frequent association of endothelial dysfunction in patients with Mucopolysaccharidosis.

abstract：:When screening for carnitine uptake disorder (CUD), the New Zealand (NZ) newborn screening (NBS) service identified infants as screen-positive if they had initial and repeat free carnitine (C0) levels of less than 5.0 μmol/L. Since 2006, the NBS service has identified two infants with biochemical and genetic features ...

journal_title：Journal of inherited metabolic disease

authors： Wilson C,Knoll D,de Hora M,Kyle C,Glamuzina E,Webster D

更新日期：2019-01-01 00:00:00

abstract：:Hawkinsinuria is a rare disorder of tyrosine metabolism that can manifest with metabolic acidosis and growth arrest around the time of weaning off breast milk, typically followed by spontaneous resolution of symptoms around 1 year of age. The urinary metabolites hawkinsin, quinolacetic acid, and pyroglutamic acid can ...

journal_title：Journal of inherited metabolic disease

authors： Gomez-Ospina N,Scott AI,Oh GJ,Potter D,Goel VV,Destino L,Baugh N,Enns GM,Niemi AK,Cowan TM

更新日期：2016-11-01 00:00:00

abstract：:Plasma and erythrocyte fatty acids have been measured in 9 patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency being treated with a low-fat diet. No significant abnormality was detected and in particular docosahexaenoic acid was not deficient. ...

journal_title：Journal of inherited metabolic disease

authors： Lund AM,Dixon MA,Vreken P,Leonard JV,Morris AA

更新日期：2003-01-01 00:00:00

abstract：:A patient with hyperuricaemia and gouty arthritis due to a new variant of hypoxanthine-guanine phosphoribosyltransferase is described. The mutation (I136T, HPRT Marseille) is in the phosphoribosylpyrophosphate-binding region of the gene and leads to almost total loss of enzyme activity in erythrocytes, with 5% in lymp...

journal_title：Journal of inherited metabolic disease

authors： Dussol B,Ceballos-Picot I,Aral B,Castera V,Philip N,Berland Y

更新日期：2004-01-01 00:00:00

abstract：:Neurological manifestations in Lesch-Nyhan disease (LND) are attributed to the effect of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency on the nervous system development. HPRT deficiency causes the excretion of increased amounts of hypoxanthine into the extracellular medium and we hypothesized that H...

journal_title：Journal of inherited metabolic disease

authors： Torres RJ,Puig JG

更新日期：2015-11-01 00:00:00

abstract：:Utilizing PCR and PCR-SSCP analysis we investigated the prevalence of glucocerebrosidase gene mutations in 47 unrelated Japanese patients with Gaucher disease. Sixty alleles (63.8%) and 20 alleles (21.3%) were identified by analysis for common mutations and PCR-SSCP analysis, respectively. The L444P and F213I mutation...

journal_title：Journal of inherited metabolic disease

authors： Ida H,Rennert OM,Kawame H,Maekawa K,Eto Y

更新日期：1997-03-01 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：:Carnitine transporter deficiency (CTD) and holocarboxylase synthetase deficiency (HLCSD) are frequent in The Faroe Islands compared to other areas, and treatment is available for both disorders. In order to evaluate the feasibility of neonatal screening in The Faroe Islands we studied detection in the neonatal period ...

journal_title：Journal of inherited metabolic disease

authors： Lund AM,Joensen F,Hougaard DM,Jensen LK,Christensen E,Christensen M,Nørgaard-Petersen B,Schwartz M,Skovby F

更新日期：2007-06-01 00:00:00

abstract：BACKGROUND:Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder, characterised by chronic diarrhoea, xanthomas, cataracts, and neurological deterioration. CTX is caused by CYP27A1 deficiency, which leads to abnormal cholesterol and bile acid metabolism. Urinary bile acid profiling (increased m/z 627: glucuro...

journal_title：Journal of inherited metabolic disease

authors： Claesen JLA,Koomen E,Schene IF,Jans JJM,Mast N,Pikuleva IA,van der Ham M,de Sain-van der Velden MGM,Fuchs SA

更新日期：2020-07-01 00:00:00

abstract：:Lysinuric protein intolerance (LPI) is a disorder of dibasic amino acid transport secondary to mutation of the SLC7A7 gene characterized by renal failure, pulmonary alveolar proteinosis, lupus-like autoimmune symptoms and usually increased plasma citrulline. In order to better understand the underlying mechanism, we s...

journal_title：Journal of inherited metabolic disease

authors： Mannucci L,Emma F,Markert M,Bachmann C,Boulat O,Carrozzo R,Rizzoni G,Dionisi-Vici C

更新日期：2005-01-01 00:00:00

abstract：:Urea cycle disorders often present as devastating metabolic conditions, resulting in high mortality and significant neuropsychological damage, despite treatment. The Urea Cycle Disorders Longitudinal Study is a natural history study that collects data from regular clinical follow-up and neuropsychological testing. Thi...

journal_title：Journal of inherited metabolic disease

authors： Waisbren SE,Cuthbertson D,Burgard P,Holbert A,McCarter R,Cederbaum S,Members of the Urea Cycle Disorders Consortium.

更新日期：2018-07-01 00:00:00

abstract：BACKGROUND:Aromatic L-amino acid decarboxylase (AADC) deficiency is a disorder of biogenic amine metabolism resulting in generalized combined deficiency of serotonin, dopamine and catecholamines. Main clinical features are developmental delay, muscular hypotonia, dystonia, oculogyric crises and additional extraneurolog...

journal_title：Journal of inherited metabolic disease

authors： Manegold C,Hoffmann GF,Degen I,Ikonomidou H,Knust A,Laass MW,Pritsch M,Wilichowski E,Hörster F

更新日期：2009-06-01 00:00:00

abstract：:We report a 5-year-old child carrying polymerase gamma (POLG1) mutations, but strikingly normal oxidative phosphorylation analysis in muscle, fibroblasts and liver. Mutations in POLG1 have so far been described in children with severe combined oxidative phosphorylation (OXPHOS) deficiencies and with the classical Alpe...

journal_title：Journal of inherited metabolic disease

authors： de Vries MC,Rodenburg RJ,Morava E,Lammens M,van den Heuvel LP,Korenke GC,Smeitink JA

更新日期：2008-12-01 00:00:00

abstract：:Important therapeutic principles were established in developing effective enzyme replacement therapy for patients with Gaucher disease. The background and sequence of the investigations that led to effective delivery of exogenous glucocerebrosidase to the lipid-storing macrophages in patients with Gaucher disease are ...

journal_title：Journal of inherited metabolic disease

authors： Brady RO,Murray GJ,Barton NW

更新日期：1994-01-01 00:00:00

abstract：:We describe three patients with congenital disorder of glycosylation (CDG) type Ia, all of whom had persistent hyperinsulinaemic hypoglycaemia responding to diazoxide therapy as a common feature. The first patient, an infant girl, presented with recurrent vomiting, failure to thrive, liver impairment, hypothyroidism a...

journal_title：Journal of inherited metabolic disease

authors： Shanti B,Silink M,Bhattacharya K,Howard NJ,Carpenter K,Fietz M,Clayton P,Christodoulou J

更新日期：2009-12-01 00:00:00

abstract：: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...

journal_title：Journal of inherited metabolic disease

authors： de Koning TJ

更新日期：2006-04-01 00:00:00

abstract：:In a series of 137 patients with methylmalonic acidaemia (MMA) and propionic acidaemia (PA) diagnosed since the early 1970s, we report in more detail 81 patients (51 MMA and 30 PA) diagnosed between 1988 and 2005. In this series, 14% of patients died at initial access revealing the disease before or despite treatment,...

journal_title：Journal of inherited metabolic disease

authors： Touati G,Valayannopoulos V,Mention K,de Lonlay P,Jouvet P,Depondt E,Assoun M,Souberbielle JC,Rabier D,Ogier de Baulny H,Saudubray JM

更新日期：2006-04-01 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：:Leigh syndrome is a neurodegenerative disorder of infancy or childhood generally due to mutations in nuclear or mitochondrial genes involved in mitochondrial energy metabolism. We performed linkage analysis in an Ashkenazi Jewish (AJ) family without consanguinity with three affected children. Linkage to microsatellite...

journal_title：Journal of inherited metabolic disease

authors： Anderson SL,Chung WK,Frezzo J,Papp JC,Ekstein J,DiMauro S,Rubin BY

更新日期：2008-12-01 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：:There have been few reports of cases missed by expanded newborn screening. Tandem mass spectrometry was introduced in New South Wales, Australia in 1998 to screen for selected disorders of amino acid, organic acid and fatty acid metabolism. Of 1,500,000 babies screened by 2012, 1:2700 were diagnosed with a target diso...

journal_title：Journal of inherited metabolic disease

authors： Estrella J,Wilcken B,Carpenter K,Bhattacharya K,Tchan M,Wiley V

更新日期：2014-11-01 00:00:00

abstract：:Latin America includes more than 40 countries and possessions, and its population of 570 million has an important representation of the three main human races. The area is experiencing an economic improvement, progressively bringing the inborn errors of metabolism (IEM) to a higher level among health priorities. Chall...

journal_title：Journal of inherited metabolic disease

authors： Giugliani R

更新日期：2010-10-01 00:00:00

abstract：:The transmembrane domain recognition complex (TRC) targets cytoplasmic C-terminal tail-anchored (TA) proteins to their respective membranes in the endoplasmic reticulum (ER), Golgi, and mitochondria. It is composed of three proteins, GET4, BAG6, and GET5. We identified an individual with compound heterozygous missense...

journal_title：Journal of inherited metabolic disease

authors： Tambe MA,Ng BG,Shimada S,Wolfe LA,Adams DR,Undiagnosed Diseases Network.,Gahl WA,Bamshad MJ,Nickerson DA,Malicdan MCV,Freeze HH

更新日期：2020-09-01 00:00:00

abstract：:We present a 32-year-old patient who, from age 7 months, developed photophobia, left-eye ptosis and progressive muscular weakness. At age 7 years, she showed normal psychomotor development, bilateral ptosis and exercise-induced weakness with severe acidosis. Basal blood and urine lactate were normal, increasing dramat...

journal_title：Journal of inherited metabolic disease

authors： Quintana E,Pineda M,Font A,Vilaseca MA,Tort F,Ribes A,Briones P

更新日期：2010-12-01 00:00:00

abstract：:A striking elevation of plasma chitotriosidase activity, greater than 150 times the normal median value, was found in two galactosialidosis patients. Furthermore, increased plasma chitotriosidase activity, 10-53 times the normal median value, was also observed in fucosidosis, glycogen storage disease type IV, Alagille...

journal_title：Journal of inherited metabolic disease

authors： Michelakakis H,Dimitriou E,Labadaridis I

更新日期：2004-01-01 00:00:00

abstract：:Lysosomal disease represents a large group of more than 50 clinically recognized conditions resulting from inborn errors of metabolism affecting the organelle known as the lysosome. The lysosome is an integral part of the larger endosomal/lysosomal system, and is closely allied with the ubiquitin-proteosomal and autop...

journal_title：Journal of inherited metabolic disease

authors： Walkley SU

更新日期：2009-04-01 00:00:00

abstract：BACKGROUND:Hearing loss and tinnitus are common symptoms in Fabry disease and increase in prevalence with age. This study aimed to provide an epidemiological description of hearing impairment and tinnitus in children with Fabry disease in the Fabry Outcome Survey (FOS), an international database to assess the natural h...

journal_title：Journal of inherited metabolic disease

authors： Keilmann A,Hajioff D,Ramaswami U,FOS Investigators.

更新日期：2009-12-01 00:00:00

abstract：:The clinical problems, dietary management and biochemical monitoring over a 40-year period of the longest-surviving patient with maple syrup urine disease are described. Her case illustrates that a good outcome can be obtained with early diagnosis and institution of a diet restricted in branched-chain amino acids. Cha...

journal_title：Journal of inherited metabolic disease

authors： le Roux C,Murphy E,Lilburn M,Lee PJ

更新日期：2006-02-01 00:00:00

abstract：:We have identified a common novel mutation (Q354X) in the argininosuccinate lyase (ASL) gene in Saudi patients with argininosuccinic aciduria (ASAuria; McKusick 207900). The two index patients were siblings, had a neonatal onset of the disease and were diagnosed based on the clinical presentation and confirmed by anal...

journal_title：Journal of inherited metabolic disease

authors： Al-Sayed M,Alahmed S,Alsmadi O,Khalil H,Rashed MS,Imtiaz F,Meyer BF

更新日期：2005-01-01 00:00:00

abstract：:6-Methyluracil (6MU) has been identified in urine collected during acute illness in two children with beta-ketothiolase deficiency (approximately 1 mmol/L) and in two children with recurrent infection-related ketoacidaemia of unknown aetiology (levels of 6.3 and 7.1 mmol/mmol creatinine). Significant amounts of 6MU we...

journal_title：Journal of inherited metabolic disease

authors： Cromby CH,Manning NJ,Pollitt RJ,Powell S,Bennett MJ

更新日期：1994-01-01 00:00:00