Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease.

abstract：BACKGROUND:Pancreatitis-associated protein (PAP) is currently discussed as a marker in newborn screening (NBS) for cystic fibrosis (CF). However, it is not known if PAP concentrations are influenced by sex, gestational age, birth weight, blood transfusion or time of collection and what this would mean for NBS for CF. ...

journal_title：Journal of inherited metabolic disease

authors： Vernooij-van Langen AM,Loeber JG,Elvers B,Triepels RH,Roefs J,Gille JJ,Reijntjens S,Dompeling E,Dankert-Roelse JE

更新日期：2013-01-01 00:00:00

abstract：:We report a Brazilian girl who was diagnosed as having galactosialidosis (deficiency of protective protein/cathepsin A; PPCA deficiency; GS) at the age of 2 years 6 months during an extensive investigation for renal failure. She was found to have low levels of both β-galactosidase and α-neuraminidase in fibroblasts an...

journal_title：Journal of inherited metabolic disease

authors： Kiss A,Zen PR,Bittencourt V,Paskulin GA,Giugliani R,d'Azzo A,Schwartz IV

更新日期：2008-12-01 00:00:00

abstract：:The intestinal microvillar enzyme complex sucrase-isomaltase has been studied in cystic fibrosis and control ileum. A number of biochemical parameters of the enzyme in ileum homogenates have been determined. Both solubilized as well as membrane-bound sucrase-isomaltase were analyzed with respect to their reaction with...

journal_title：Journal of inherited metabolic disease

authors： Sips HJ,Claass AH,van Dongen JM,Willemsen R,Hoogeveen AT,Galjaard H,Sinaasappel M,Hauri HP,Sterchi EE

更新日期：1985-01-01 00:00:00

abstract：:Biotinidase deficiency is an autosomal recessive metabolic disorder included in many newborn screening programmes. Prior to the introduction of screening for biotinidase deficiency in Sweden in 2002, the disorder was almost unknown, with only one case diagnosed clinically. Biotinidase activity was measured in dried bl...

journal_title：Journal of inherited metabolic disease

authors： Ohlsson A,Guthenberg C,Holme E,von Döbeln U

更新日期：2010-12-01 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：: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：:5-Oxoprolinuria is primarily associated with inborn errors of the gamma-glutamyl cycle. In addition, transient 5-oxoprolinuria has been reported to occur in a variety of conditions, such as prematurity and malnutrition, and during medication. We report an unusual case of permanent 5-oxoprolinuria. The patient presente...

journal_title：Journal of inherited metabolic disease

authors： Ruijter GJ,Mourad-Baars PE,Ristoff E,Onkenhout W,Poorthuis BJ

更新日期：2006-08-01 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：:Mucopolysaccharidosis II (Hunter disease), a lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS), has variable clinical phenotypes. Nearly 300 different mutations have been identified in the IDS gene from patients with Hunter disease, but the correlation between the genotype and phenotype ...

journal_title：Journal of inherited metabolic disease

authors： Sukegawa-Hayasaka K,Kato Z,Nakamura H,Tomatsu S,Fukao T,Kuwata K,Orii T,Kondo N

更新日期：2006-12-01 00:00:00

abstract：:Retinitis pigmentosa can occur as a complication of mevalonate kinase deficiency. This may be due to the unique isoprenoid metabolism in the retina. Early detection requires awareness on the part of the treating physician. ...

journal_title：Journal of inherited metabolic disease

authors： Balgobind B,Wittebol-Post D,Frenkel J

更新日期：2005-01-01 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：:We report two novel mutations in two Japanese patients with glycogen storage disease type IIIa (GSD IIIa). In addition, we review the literature on mutations in GSD III to understand better the molecular basis of GSD III. In our first case, the homozygous A-to-C mutation at the acceptor site of intron 5 (IVS5-2A > C) ...

journal_title：Journal of inherited metabolic disease

authors： Fukuda T,Sugie H,Ito M

更新日期：2000-03-01 00:00:00

abstract：INTRODUCTION:Long-term outcome is postulated to be different in isolated methylmalonic aciduria caused by mutations in the MMAA gene (cblA type) compared with methylmalonyl-CoA mutase deficiency (mut), but case definition was previously difficult. METHOD:Cross-sectional analysis of data from the European Registry and ...

journal_title：Journal of inherited metabolic disease

authors： Hörster F,Tuncel AT,Gleich F,Plessl T,Froese SD,Garbade SF,Kölker S,Baumgartner MR,Additional Contributors from E-IMD.

更新日期：2021-01-01 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：:GM2-gangliosidosis B1 variant, considered a rare disorder with a wide geographical and ethnic distribution, appears to be exceptionally frequent in Portugal. In order to establish a carrier detection method for this disease we have determined the ratio of enzymatic activities against 4MUGS and 4MUG in urine from B1 va...

journal_title：Journal of inherited metabolic disease

authors： Ribeiro MG,Pinto R,Oliveira P,Sá Miranda MC

更新日期：1993-01-01 00:00:00

abstract：:Among the many disorders of fatty acid beta-oxidation known today, the disorders of long-chain fatty acid oxidation are the most severe and life-threatening. One remarkable abnormality, not observed in, for instance, medium-chain acyl-CoA dehydrogenase deficiency, is the moderate to severe lactic acidaemia in long-cha...

journal_title：Journal of inherited metabolic disease

authors： Ventura FV,Ruiter JP,IJlst L,de Almeida IT,Wanders RJ

更新日期：1998-08-01 00:00:00

abstract：:A female patient with isovaleric acidaemia had a successful outcome from pregnancy. ...

journal_title：Journal of inherited metabolic disease

authors： Spinty S,Rogozinski H,Lealman GT,Wraith JE

更新日期：2002-12-01 00:00:00

abstract：:Fabry disease is an inherited lysosomal storage disease caused by deficiency of alpha-galactosidase A. Enzyme replacement therapy for this multisystem progressive disease has been available only since 2001. We here report the first known successful pregnancy of a female patient receiving such therapy. ...

journal_title：Journal of inherited metabolic disease

authors： Wendt S,Whybra C,Kampmann C,Teichmann E,Beck M

更新日期：2005-01-01 00:00:00

abstract：:Congenital disorders of glycosylation (CDG) are a group of hereditary metabolic diseases characterized by abnormal glycosylation of proteins and lipids. Often, multisystem disorders with central nervous system involvement and a large variety of clinical symptoms occur. The main characteristics are developmental delay,...

journal_title：Journal of inherited metabolic disease

authors： Dörre K,Olczak M,Wada Y,Sosicka P,Grüneberg M,Reunert J,Kurlemann G,Fiedler B,Biskup S,Hörtnagel K,Rust S,Marquardt T

更新日期：2015-09-01 00:00:00

abstract：:The retinal and neurological complications of abetalipoproteinaemia may be preventable by replacing vitamins A and E from an early age, but their role in adult presentations is less clear. Two adult females with abetalipoproteinaemia have received 8 and 10 years respectively of replacement therapy with vitamins A, E a...

journal_title：Journal of inherited metabolic disease

authors： MacGilchrist AJ,Mills PR,Noble M,Foulds WS,Simpson JA,Watkinson G

更新日期：1988-01-01 00:00:00

abstract：:Glutaric aciduria type I (GA1) is a preventable cause of acute brain damage in early childhood, leading to a severe dystonic-dyskinetic disorder that is similar to cerebral palsy and ranges from extreme hypotonia to choreoathetosis to rigidity with spasticity. Degeneration of the putamen and caudate typically occurs b...

journal_title：Journal of inherited metabolic disease

authors： Barić I,Zschocke J,Christensen E,Duran M,Goodman SI,Leonard JV,Müller E,Morton DH,Superti-Furga A,Hoffmann GF

更新日期：1998-06-01 00:00:00

abstract：:Animal models of inborn errors of metabolism are useful for investigating the pathogenesis associated with the corresponding human disease. Since the mechanisms involved in the pathophysiology of succinate semialdehyde dehydrogenase (SSADH) deficiency (Aldh5a1; OMIM 271980) are still not established, in the present st...

journal_title：Journal of inherited metabolic disease

authors： Latini A,Scussiato K,Leipnitz G,Gibson KM,Wajner M

更新日期：2007-10-01 00:00:00

abstract：:Spastic paraparesis is a general term describing progressive stiffness and weakness in the lower limbs caused by pyramidal tract lesions. This clinical situation is frequently encountered in adult neurology. The diagnostic survey is usually limited to searching for acquired causes (spinal cord compression, inflammator...

journal_title：Journal of inherited metabolic disease

authors： Sedel F,Fontaine B,Saudubray JM,Lyon-Caen O

更新日期：2007-11-01 00:00:00

abstract：:There is paucity of literature on dietary treatment in glycogen storage disease (GSD) type IV and formal guidelines are not available. Traditionally, liver transplantation was considered the only treatment option for GSD IV. In light of the success of dietary treatment for the other hepatic forms of GSD, we have initi...

journal_title：Journal of inherited metabolic disease

authors： Derks TGJ,Peeks F,de Boer F,Fokkert-Wilts M,van der Doef HPJ,van den Heuvel MC,Szymańska E,Rokicki D,Ryan PT,Weinstein DA

更新日期：2020-12-17 00:00:00

abstract：:Every newborn with unexplained neurological deterioration, ketosis, metabolic acidosis or hypoglycaemia should be suspected of having an inherited error of intermediary metabolism. Many of these conditions can be diagnosed clinically with the aid of simple laboratory investigations. Since a substantial number of these...

journal_title：Journal of inherited metabolic disease

authors： Saudubray JM,Ogier H,Bonnefont JP,Munnich A,Lombes A,Hervé F,Mitchel G,Thé BP,Specola N,Parvy P

更新日期：1989-01-01 00:00:00

abstract：:We report on our 6-year experience of expanded newborn screening by tandem mass spectrometry in Tuscany (Italy), the first Italian Region to screen all newborns for more than 40 inborn errors of metabolism: organization, diseases observed and updates on methods to reduce false-positive and false-negative tests are des...

journal_title：Journal of inherited metabolic disease

authors： la Marca G,Malvagia S,Casetta B,Pasquini E,Donati MA,Zammarchi E

更新日期：2008-12-01 00:00:00

abstract：:Defects of the mitochondrial oxidative phosphorylation (OXPHOS) system are frequent causes of neurological disorders in children. Linkage analysis and DNA sequencing identified a new founder p.G250V substitution in the C20ORF7 complex I chaperone in five Ashkenazi Jewish patients from two families with a combined OXPH...

journal_title：Journal of inherited metabolic disease

authors： Saada A,Edvardson S,Shaag A,Chung WK,Segel R,Miller C,Jalas C,Elpeleg O

更新日期：2012-01-01 00:00:00

abstract：BACKGROUND:Farber disease (FD) is a rare, lysosomal storage disorder caused by deficient acid ceramidase activity. FD has long been considered a fatal disorder with death in the first three decades of life resulting either from respiratory insufficiency as a consequence of airway involvement or from progressive neurode...

journal_title：Journal of inherited metabolic disease

authors： Ehlert K,Levade T,Di Rocco M,Lanino E,Albert MH,Führer M,Jarisch A,Güngör T,Ayuk F,Vormoor J

更新日期：2019-03-01 00:00:00

abstract：:A new variant of glycogen storage disease (GSD) Type 1, with clinical symptoms and laboratory findings consistent with those of glucose-6-phosphatase (G6Pase) deficiency, is described. Assay of G6Pase in liver from the patient immediately after biopsy by the method of Nordlie and Arion gave low activity (0.8 mumol/min...

journal_title：Journal of inherited metabolic disease

authors： Igarashi Y,Otomo H,Narisawa K,Tada K

更新日期：1980-01-01 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