International Paediatric Mitochondrial Disease Scale.

abstract：:Fabry disease (FD) is a multi-systemic X-linked lysosomal disorder caused by the deficient activity of α-galactosidase-A enzyme, which leads to accumulation of glycosphingolipids in various body tissues. The N215S mutation is a known variant of FD, with a late onset cardiac phenotype. Consensus guidelines acknowledged...

journal_title：Journal of inherited metabolic disease

authors： Alharbi FJ,Baig S,Auray-Blais C,Boutin M,Ward DG,Wheeldon N,Steed R,Dawson C,Hughes D,Geberhiwot T

更新日期：2018-03-01 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 inheritance of Crigler-Najjar type II disease is still contested. Autosomal dominant transmission with incomplete penetrance and autosomal recessive transmission have been proposed. We had the opportunity to study the hepatic activity of bilirubin uridinediphosphate glucuronyltransferase in parents whose first chi...

journal_title：Journal of inherited metabolic disease

authors： Labrune P,Myara A,Hennion C,Gout JP,Trivin F,Odievre M

更新日期：1989-01-01 00:00:00

abstract：UNLABELLED:In pilot studies of the usefulness of solid state nuclear magnetic resonance spectroscopy in characterizing chemical and molecular structural effects of alkaptonuria on connective tissue, we have obtained (13) C spectra from articular cartilage from an AKU patient. An apparently normal anatomical location yi...

journal_title：Journal of inherited metabolic disease

authors： Chow WY,Taylor AM,Reid DG,Gallagher JA,Duer MJ

更新日期：2011-12-01 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：: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：:Aspartylglycosaminuria (AGU) is a lysosomal storage disorder of glycoprotein degradation caused by deficiency of glycosylasparaginase (GA). A deletion mutation was found in a mildly affected AGU patient whose parents are first-cousins of Mauritian origin. One bp deletion at position 787 or 788 (delta T788) in exon 7 o...

journal_title：Journal of inherited metabolic disease

authors： Park H,Rossiter M,Fensom AH,Winchester B,Aronson NN Jr

更新日期：1996-01-01 00:00:00

abstract：:Four neonates with a positive phenylalanine screening test (Phe concentrations between 258 and 1250 micromol/L) were investigated further to differentiate between phenylalanine hydroxylase (PAH) deficiency and variant hyperphenylalaninaemia (HPA) forms. In patients 1 and 2 a tetrahydrobiopterin (BH4) load caused a sig...

journal_title：Journal of inherited metabolic disease

authors： Spaapen LJ,Bakker JA,Velter C,Loots W,Rubio-Gozalbo ME,Forget PP,Dorland L,De Koning TJ,Poll-The BT,Ploos van Amstel HK,Bekhof J,Blau N,Duran M

更新日期：2001-06-01 00:00:00

abstract：UNLABELLED:This report describes the clinical, biochemical and molecular data of a 78-year-old patient with xanthine dehydrogenase deficiency presenting as rheumatoid arthritis. BACKGROUND:Xanthinuria type I is a rare disorder of purine metabolism caused by xanthine dehydrogenase (XDH) deficiency; fewer than 150 cases...

journal_title：Journal of inherited metabolic disease

authors： Jurecka A,Stiburkova B,Krijt J,Gradowska W,Tylki-Szymanska A

更新日期：2010-12-01 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：:Current understanding of the means by which the trace metals copper, iron, and zinc are transported and stored in the human body is reviewed. Although metal-related inherited metabolic diseases manifest themselves as deficiencies in metalloenzymes, these deficiencies in fact arise from disturbances in the absorption/r...

journal_title：Journal of inherited metabolic disease

authors： Laurie SH

更新日期：1983-01-01 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 CLN3 gene is involved in juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten-Spielmeyer-Vogt disease, a severe hereditary neurodegenerative lysosomal storage disorder characterized by progressive disease pathology, with loss of vision as the first symptom. Another characteristic of JNCL is the lysosomal accu...

journal_title：Journal of inherited metabolic disease

authors： de Voer G,van der Bent P,Rodrigues AJ,van Ommen GJ,Peters DJ,Taschner PE

更新日期：2005-01-01 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：:Even early-treated phenylketonuric patients suffer from phenylalanine-associated (mild) neuropsychological impairment. To date it is still unclear whether patients' deficits show a progression on ageing. This unsolved question seems to be an important aspect in the still ongoing debate about how long and how strictly ...

journal_title：Journal of inherited metabolic disease

authors： Weglage J,Pietsch M,Denecke J,Sprinz A,Feldmann R,Grenzebach M,Ullrich K

更新日期：1999-08-01 00:00:00

abstract：:Twin brothers were born with clinical symptoms indicating that they were suffering from Zellweger syndrome. However, instead of a generalized peroxisomal dysfunction, only very long-chain fatty acids and the pristanic acid/phytanic acid ratio were elevated in plasma and decreased oxidation of very long-chain fatty aci...

journal_title：Journal of inherited metabolic disease

authors： Christensen E,Pedersen SA,Leth H,Jakobs C,Schutgens RB,Wanders RJ

更新日期：1997-09-01 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：: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：: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：: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：: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：:Congenital disorders of glycosylation (CDG) are one group among the disorders of glycosylation. The latter comprise defects associated with hypoglycosylation but also defects with hyperglycosylation. Genetic diseases with hypoglycosylation can be divided in primary congenital disorders of glycosylation (CDG) and in ge...

journal_title：Journal of inherited metabolic disease

authors： Jaeken J,Péanne R

更新日期：2017-07-01 00:00:00

abstract：:This article documents both the neurological and physical outcomes of the first published set of siblings undergoing transplantation at differing ages for α-mannosidosis. The older brother, the index case, was diagnosed at the age of 3 years and underwent transplantation at 13 years for the treatment of increasing som...

journal_title：Journal of inherited metabolic disease

authors： Broomfield AA,Chakrapani A,Wraith JE

更新日期：2010-12-01 00:00:00

abstract：:We report studies on two patients (1 and 2) with Hurler disease. They both had all of the non-neurological features of Hurler disease to a similar and extreme degree and similar signs of brain damage on computed tomography. However, intellectual function was unusually well-preserved in patient 1, but seriously and typ...

journal_title：Journal of inherited metabolic disease

authors： Watts RW,Spellacy E,Adams JH

更新日期：1986-01-01 00:00:00

abstract：:Glycogen storage disease type 1a (von Gierke disease, GSD1a) is caused by the deficiency of microsomal glucose-6-phosphatase (G6Pase) activity. The cloning of G6Pase cDNA and characterization of the human G6Pase gene enabled the identification of the mutations causing GSD1a. Here we report on the clinical and biochemi...

journal_title：Journal of inherited metabolic disease

authors： Parvari R,Isam J,Moses SW

更新日期：1999-04-01 00:00:00

abstract：:Mutations in genes encoding metabolic enzymes are often the cause of inherited diseases. Mutations usually affect the ability of proteins to fold properly, thus leading to enzyme loss of function. In this work, we explored the relationships between protein stability, aggregation, and degradation in vitro and inside ce...

journal_title：Journal of inherited metabolic disease

authors： Pey AL,Maggi M,Valentini G

更新日期：2014-11-01 00:00:00

abstract：:Inborn errors of purine metabolism exhibit broad neurological, immunological, haematological and renal manifestations. Limited awareness of the phenotypic spectrum, the recent descriptions of newer disorders and considerable genetic heterogeneity, have contributed to long diagnostic odysseys for affected individuals. ...

journal_title：Journal of inherited metabolic disease

authors： Balasubramaniam S,Duley JA,Christodoulou J

更新日期：2014-09-01 00:00:00

abstract：:The activity (mean +/- SD) of galactose-1-phosphate uridyl transferase in two long-term lymphoid cell lines from Caucasian patients with transferase deficiency galactosaemia, a heterozygote, and eight normal subjects was 0, 78 and 168 +/- 55 nmol UDPG consumed (mg protein)-1h-1, respectively. Also, no activity was fou...

journal_title：Journal of inherited metabolic disease

authors： Beratis NG,Wilbur L

更新日期：1987-01-01 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：BACKGROUND:Variations in the gene ACADS, encoding the mitochondrial protein short-chain acyl CoA-dehydrogenase (SCAD), have been observed in individuals with clinical symptoms. The phenotype of SCAD deficiency (SCADD) is very heterogeneous, ranging from asymptomatic to severe, without a clear genotype-phenotype correla...

journal_title：Journal of inherited metabolic disease

authors： Schmidt SP,Corydon TJ,Pedersen CB,Vang S,Palmfeldt J,Stenbroen V,Wanders RJ,Ruiter JP,Gregersen N

更新日期：2011-04-01 00:00:00