Multiple sulphatase deficiency in homozygotic twins.

abstract：:Rapid diagnosis and early specific treatment of metabolic epilepsies due to inborn errors of metabolism (IEMs) is crucial to avoid irreversible sequalae. Nowadays, besides the profile analysis of amino- and organic acids, a range of additional targeted assays is used for the selective screening of those diseases. This...

journal_title：Journal of inherited metabolic disease

authors： Mathis D,Beese K,Rüegg C,Plecko B,Hersberger M

更新日期：2020-09-01 00:00:00

abstract：:We present an update to the status of research on succinic semialdehyde dehydrogenase (SSADH) deficiency (SSADHD), a rare disorder of GABA metabolism. This is an unusual disorder featuring the accumulation of both GABA and its neuromodulatory analog, gamma-hydroxybutyric acid (GHB), and recent studies have advanced th...

journal_title：Journal of inherited metabolic disease

authors： Vogel KR,Ainslie GR,Walters DC,McConnell A,Dhamne SC,Rotenberg A,Roullet JB,Gibson KM

更新日期：2018-07-01 00:00:00

abstract：:A survey is given of literature reports on the effect of performance in offspring from 26 maternal PKU pregnancies treated prior to conception. The survey includes two women who were referred to us for genetic counselling because they had both given birth to microcephalic, mentally retarded children. The women were di...

journal_title：Journal of inherited metabolic disease

authors： Güttler F,Lou H,Andresen J,Kok K,Mikkelsen I,Nielsen KB,Nielsen JB

更新日期：1990-01-01 00:00:00

abstract：:The natural history of most rare diseases is incompletely understood and usually relies on studies with low level of evidence. Consistent with the goals for future research of rare disease research set by the International Rare Diseases Research Consortium in 2017, the purpose of this paper is to review the recently d...

journal_title：Journal of inherited metabolic disease

authors： Garbade SF,Zielonka M,Komatsuzaki S,Kölker S,Hoffmann GF,Hinderhofer K,Mountford WK,Mengel E,Sláma T,Mechler K,Ries M

更新日期：2021-01-01 00:00:00

abstract：:Dopa decarboxylase (DDC or AADC) is a pyridoxal 5'-phosphate (PLP)-dependent enzyme that catalyzes the decarboxylation of L-aromatic amino acids into the corresponding aromatic amines. AADC deficiency is an inborn error of neurotransmitters biosynthesis with an autosomal recessive inheritance. About 30 pathogenic muta...

journal_title：Journal of inherited metabolic disease

authors： Montioli R,Cellini B,Borri Voltattorni C

更新日期：2011-12-01 00:00:00

abstract：:Until recently, there have not been any confirmed reports of beta-mannosidase deficiency in man. We have now analysed urine from two patients with confirmed beta-mannosidase deficiency and have found Man-beta(1-4)GlcNAc concentrations of 65 and 73 mg/mmol creatinine. These levels are at least 12 times higher than thos...

journal_title：Journal of inherited metabolic disease

authors： Tjoa S,Wenger DA,Fennessey PV

更新日期：1990-01-01 00:00:00

abstract：:We report 8 cases of severe cytochrome c oxidase deficiency with onset in the neonatal period. Clinical symptoms were heterogeneous: antenatal cerebral malformations, neurological distress with ketoacidosis, severe myopathy, or isolated respiratory control failure. Lactic acid was elevated in blood and/or CSF in 7 cas...

journal_title：Journal of inherited metabolic disease

authors： Lombes A,Romero NB,Touati G,Frachon P,Cheval MA,Giraud M,Simon D,Ogier de Baulny H

更新日期：1996-01-01 00:00:00

abstract：:Danon disease is an X-linked disorder resulting from mutations in the lysosome-associated membrane protein-2 (LAMP2) gene. We report a male patient with skeletal myopathy, mental retardation, and massive hypertrophic obstructive cardiomyopathy necessitating heart transplantation. Immunohistochemistry of skeletal muscl...

journal_title：Journal of inherited metabolic disease

authors： Regelsberger G,Höftberger R,Pickl WF,Zlabinger GJ,Körmöczi U,Salzer-Muhar U,Luckner D,Bodamer OA,Mayr JA,Muss WH,Budka H,Bernheimer H

更新日期：2009-12-01 00:00:00

abstract：:A sensitive and selective analytical technique is described for the determination of N-acetylaspartic acid in body fluids using stable isotope dilution in combination with positive chemical ionization mass spectrometry with selected ion monitoring. Control mean and ranges have been established: in urine 19.5 and 6.6-3...

journal_title：Journal of inherited metabolic disease

authors： Jakobs C,ten Brink HJ,Langelaar SA,Zee T,Stellaard F,Macek M,Srsnová K,Srsen S,Kleijer WJ

更新日期：1991-01-01 00:00:00

abstract：:Interest in newborn screening (NBS) for lysosomal storage disorders (LSDs) has increased significantly due to newly developed enzyme replacement therapy (ERT), the need for early diagnosis, and advances in technical developments. Since the central nervous system cannot be treated by ERT, neuronopathic LSDs are general...

journal_title：Journal of inherited metabolic disease

authors： Hwu WL,Chien YH,Lee NC

更新日期：2010-08-01 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：:Organic acidaemias can present with a wide variety of signs and symptoms. A survey of the clinical presentation of the organic acidurias shows that single symptoms are not characteristic or diagnostic. Clinical awareness coupled with appropriate laboratory investigation is required for the correct diagnosis to be reac...

journal_title：Journal of inherited metabolic disease

authors： Brandt NJ

更新日期：1984-01-01 00:00:00

abstract：BACKGROUND:Recent decades have unravelled the molecular background of a number of inborn errors of metabolism (IEM) causing vitamin B6-dependent epilepsy. As these defects interfere with vitamin B6 metabolism by different mechanisms, the plasma vitamin B6 profile can give important clues for further molecular work-up. ...

journal_title：Journal of inherited metabolic disease

authors： Mathis D,Abela L,Albersen M,Bürer C,Crowther L,Beese K,Hartmann H,Bok LA,Struys E,Papuc SM,Rauch A,Hersberger M,Verhoeven-Duif NM,Plecko B

更新日期：2016-09-01 00:00:00

abstract：:Cloning of the gene defective in the X-linked neurodegenerative disorder Menkes disease led to a cascade of new findings. Besides giving a better understanding of the intracellular copper homeostasis, these findings had important consequences from a clinical point of view. Today the underlying genetic defect has been ...

journal_title：Journal of inherited metabolic disease

authors： Tümer Z,Horn N

更新日期：1998-08-01 00:00:00

abstract：:This workshop was organized as a direct response to concerns and queries raised by laboratory personnel, both in Europe and in the United States, about the imminent withdrawal of Beckman Coulter from the amino acid analysis market. The topics covered included external quality control schemes, standard operating proced...

journal_title：Journal of inherited metabolic disease

authors： Mayne PD,Roche G,Deverell D

更新日期：2001-04-01 00:00:00

abstract：:Using Guthrie Biological Inhibition Assay, 4963 mentally retarded individuals housed in 31 cities and towns across the country were screened for PKU. The average prevalence of classical PKU in the study population was 2.1%, which is higher than that reported for most mentally retarded populations in other countries pr...

journal_title：Journal of inherited metabolic disease

authors： Ghiasvand NM,Aledavood A,Ghiasvand R,Seyedin Borojeny F,Aledavood AR,Seyed S,Miner W,Saeb Taheri GR

更新日期：2009-12-01 00:00:00

abstract：OBJECTIVES:To study the incidence of galactosaemia in the state of São Paulo and the benefit/cost (B/C) ratio of the introduction of neonatal screening for galactosaemia, comparing it with a selective approach. METHODS:An enzymatic-colorimetric assay was used for the screening of total galactose (TG) in a sample of 10...

journal_title：Journal of inherited metabolic disease

authors： Camelo JS Jr,Fernandes MI,Maciel LM,Scrideli CA,Santos JL,Camargo AS Jr,Passador CS,Leite PC,Resende DR,de Souza LO,Giugliani R,Jorge SM

更新日期：2009-12-01 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：: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：: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：:In mammals, dosage compensation for X-linked genes between males and females is achieved by the inactivation of one of the X chromosomes in females. The inactivation event occurs early in development in all cells of the female mouse embryo and is stable and heritable in somatic cells. However, in the primordial germ c...

journal_title：Journal of inherited metabolic disease

authors： Monk M

更新日期：1992-01-01 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：:Gonadal function was followed in 26 females and 12 males with galactosaemia due to deficiency of the enzyme galactose-1-phosphate (Gal-1-P) uridyl transferase over a 4 year period. Gonadal function was normal in males, but all females except two had evidence of acquired ovarian failure. Twelve females with ovarian fai...

journal_title：Journal of inherited metabolic disease

authors： Kaufman FR,Donnell GN,Roe TF,Kogut MD

更新日期：1986-01-01 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：:Krabbe's disease was diagnosed prenatally using cultured amniotic fluid cells and the diagnosis confirmed using fetal brain, liver and cultured fetal skin fibroblasts. The enzyme defect was demonstrated by assay of galactocerebrosidase and lactocerebrosidase I, and by hydrolysis of the chromogenic analogue, 2-hexadeca...

journal_title：Journal of inherited metabolic disease

authors： Besley GT

更新日期：1978-01-01 00:00:00

abstract：:GM(2) gangliosidoses are a group of panethnic lysosomal storage diseases in which GM(2) ganglioside accumulates in the lysosome due to a defect in one of three genes, two of which encode the alpha- or beta-subunits of beta- N -acetylhexosaminidase (Hex) A. A small inframe deletion mutation in the catalytic domain of t...

journal_title：Journal of inherited metabolic disease

authors： Sinici I,Tropak MB,Mahuran DJ,Ozkara HA

更新日期：2004-01-01 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：:Unlike normal human cells, cultured fibroblasts from patients with argininosuccinic aciduria cannot synthesize arginine from citrulline because they have a deficiency of argininosuccinic acid lyase (ASL). We have found that V79, a Chinese hamster cell line, cannot grow on citrulline. Although these cells show a normal...

journal_title：Journal of inherited metabolic disease

authors： González-Noriega A,Verduzco J,Prieto E,Velázquez A

更新日期：1980-01-01 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：: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