Continuous glucose monitoring in children with glycogen storage disease type I.

abstract：:Investigations into the biochemical markers associated with executive function (EF) impairment in children with early and continuously treated phenylketonuria (ECT-PKU) remain largely phenylalanine-only focused, despite experimental data showing that a high phenylalanine:tyrosine (phe:tyr) ratio is more strongly assoc...

journal_title：Journal of inherited metabolic disease

authors： Sharman R,Sullivan KA,Young RM,McGill JJ

更新日期：2010-12-01 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 X-linked inherited lysosomal storage disorder caused by an inborn deficiency of the enzyme α-galactosidase A. Enzyme replacement therapy (ERT) with agalsidase alpha or beta isozymes is an effective treatment. Cross-reactivity of immunoglobulin G (IgG) antibodies with agalsidase alpha and beta has b...

journal_title：Journal of inherited metabolic disease

authors： Tanaka A,Takeda T,Hoshina T,Fukai K,Yamano T

更新日期：2010-12-01 00:00:00

abstract：:Niemann-Pick disease type C2 (NPC2) is caused by the inherited deficiency of a lysosomal cholesterol transport protein, NPC2 protein. Many cases of NPC2 present in early infancy with inflammatory lung disease, with subsequent severe neurological disease and death in early childhood. This disease is theoretically corre...

journal_title：Journal of inherited metabolic disease

authors： Bonney DK,O'Meara A,Shabani A,Imrie J,Bigger BW,Jones S,Wraith JE,Wynn RF

更新日期：2010-12-01 00:00:00

abstract：:Mitochondrial diseases are usually severe and progressive conditions; however, there are rare forms that show remarkable spontaneous recoveries. Two homoplasmic mitochondrial tRNA mutations (m.14674T>C/G in mt-tRNA(Glu)) have been reported to cause severe infantile mitochondrial myopathy in the first months of life. I...

journal_title：Journal of inherited metabolic disease

authors： Boczonadi V,Bansagi B,Horvath R

更新日期：2015-05-01 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：BACKGROUND:Morphology and function of Fabry cardiomyopathy has been previously studied by echocardiography and cardiac magnetic resonance (CMR). However, the value of electrocardiography (ECG) in relation to these two techniques remains largely unknown. METHODS:One hundred fifty genetically confirmed Fabry patients we...

journal_title：Journal of inherited metabolic disease

authors： Niemann M,Hartmann T,Namdar M,Breunig F,Beer M,Machann W,Herrmann S,Ertl G,Wanner C,Weidemann F

更新日期：2013-09-01 00:00:00

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：:The content of coenzyme Q(10) (CoQ(10)) was examined in skin fibroblasts of 10 patients with mevalonic aciduria (MVA) and of 22 patients with methylmalonic aciduria (MMA). Patients with these inborn errors of metabolism are thought to be at risk for CoQ(10) depletion either by direct inhibition of the proximal pathway...

journal_title：Journal of inherited metabolic disease

authors： Haas D,Niklowitz P,Hörster F,Baumgartner ER,Prasad C,Rodenburg RJ,Hoffmann GF,Menke T,Okun JG

更新日期：2009-08-01 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：: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：:Succinic semialdehyde dehydrogenase (SSAD) is an enzyme involved in the turnover of the neurotransmitter 4-aminobutyrate (GABA). Deficiency of SSAD results in developmental delay, ataxia, seizures and 4-hydroxybutyric aciduria. We have developed a simple fluorimetric assay for the enzyme and applied it to measurement ...

journal_title：Journal of inherited metabolic disease

authors： Thorburn DR,Thompson GN,Howells DW

更新日期：1993-01-01 00:00:00

abstract：:Aspartylglycosaminuria (AGU, McKusick 20840) is a metabolic disorder affecting the catabolism of glycoproteins. It was first described in 1967, by Jenner and Pollitt, in two mentally retarded English siblings. Subsequently several cases were reported from Finland (Palo and Mattsson, 1970; Autio, 1972; Autio et al., 19...

journal_title：Journal of inherited metabolic disease

authors： Maury CP

更新日期：1982-01-01 00:00:00

abstract：BACKGROUND:Maple syrup urine disease (MSUD) is a rare disease that requires a protein-restricted diet for successful management. Little is known, however, about the psychosocial outcome of MSUD patients. This study investigates the relationship between metabolic and clinical parameters and psychosocial outcomes in a co...

journal_title：Journal of inherited metabolic disease

authors： Abi-Wardé MT,Roda C,Arnoux JB,Servais A,Habarou F,Brassier A,Pontoizeau C,Barbier V,Bayart M,Leboeuf V,Chadefaux-Vekemans B,Dubois S,Assoun M,Belloche C,Alili JM,Husson MC,Lesage F,Dupic L,Theuil B,Ottolenghi C,de

更新日期：2017-11-01 00:00:00

abstract：:The human genome contains about 3 x 10(9) base pairs which, based on average estimates for the size of coding regions, might suggest an upper limit of about 3 million genes. Evidence from a variety of approaches indicates a much lower figure--in the range 40,000-100,000 genes. Renaturation kinetic analysis reveals the...

journal_title：Journal of inherited metabolic disease

authors： Craig IW

更新日期：1994-01-01 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：:A 5-year-old boy, excreting large amounts of 2-hydroxyglutaric acid in the urine (3.3-7.6 mmol/l), is described. The patient presented with psychomotor retardation and dystrophy. His skeletal age was delayed. The EEG was not well differentiated; it resembled that observed in 2-year-old children. There was a severe ana...

journal_title：Journal of inherited metabolic disease

authors： Duran M,Kamerling JP,Bakker HD,van Gennip AH,Wadman SK

更新日期：1980-01-01 00:00:00

abstract：:We hypothesized that blood levels of γ-aminobutyric acid (GABA) and γ-hydroxybutyric acid (GHB), biomarkers of succinic semialdehyde dehydrogenase deficiency (SSADHD), would correlate with age. GABA and GHB were quantified in plasma and red blood cells (RBCs) from 18 patients (age range 5-41 years; median 8). Both met...

journal_title：Journal of inherited metabolic disease

authors： Jansen EE,Vogel KR,Salomons GS,Pearl PL,Roullet JB,Gibson KM

更新日期：2016-11-01 00:00:00

abstract：:Morphometry of peroxisomes is performed on electron micrographs of ultrathin sections after staining for catalase activity with diaminobenzidine; specific peroxisomal labelling is preferred to guarantee recognition. Peroxisomal number, size, axial ratio and volume parameters are determined and compared to control valu...

journal_title：Journal of inherited metabolic disease

authors： Kerckaert I,De Craemer D,Van Limbergen G

更新日期：1995-01-01 00:00:00

abstract：BACKGROUND:The cobalamin E (cblE) (MTRR, methionine synthase reductase) and cobalamin G (cblG) (MTR, methionine synthase) defects are rare inborn errors of cobalamin metabolism leading to impairment of the remethylation of homocysteine to methionine. METHODS:Information on clinical and laboratory data at initial full ...

journal_title：Journal of inherited metabolic disease

authors： Huemer M,Bürer C,Ješina P,Kožich V,Landolt MA,Suormala T,Fowler B,Augoustides-Savvopoulou P,Blair E,Brennerova K,Broomfield A,De Meirleir L,Gökcay G,Hennermann J,Jardine P,Koch J,Lorenzl S,Lotz-Havla AS,Noss J,Parin

更新日期：2015-09-01 00:00:00

abstract：:Creatine transporter deficiency was discovered in 2001 as an X-linked cause of intellectual disability characterized by cerebral creatine deficiency. This review describes the current knowledge regarding creatine metabolism, the creatine transporter and the clinical aspects of creatine transporter deficiency. The cond...

journal_title：Journal of inherited metabolic disease

authors： van de Kamp JM,Mancini GM,Salomons GS

更新日期：2014-09-01 00:00:00

abstract：:Patients with an inborn error of metabolism (IEM) are deficient of an enzyme involved in metabolism, and as a consequence metabolism reprograms itself to reach a new steady state. This new steady state underlies the clinical phenotype associated with the deficiency. Hence, we need to know the flux of metabolites throu...

journal_title：Journal of inherited metabolic disease

authors： Reijngoud DJ

更新日期：2018-05-01 00:00:00

abstract：:Cardiovascular lesions, including coronary artery stenosis, are frequently associated and can cause sudden death in patients with genetic defects of glycosaminoglycan (GAG) metabolism. Early diagnosis of coronary artery lesions is difficult, although potentially lifesaving. Histopathological similarities between ather...

journal_title：Journal of inherited metabolic disease

authors： Yano S,Moseley K,Wong L,Castelnovi C,Azen C,Pavlova Z

更新日期：2014-03-01 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：:The neurons of the central nervous system (CNS) require precise control of their bathing microenvironment for optimal function, and an important element in this control is the blood-brain barrier (BBB). The BBB is formed by the endothelial cells lining the brain microvessels, under the inductive influence of neighbour...

journal_title：Journal of inherited metabolic disease

authors： Abbott NJ

更新日期：2013-05-01 00:00:00

abstract：:Congenital disorders of glycosylation (CDG) are a rapidly growing family comprising >100 genetic diseases. Some 25 CDG are pure O-glycosylation defects. Even among this CDG subgroup, phenotypic diversity is broad, ranging from mild to severe poly-organ/system dysfunction. Ophthalmic manifestations are present in 60% o...

journal_title：Journal of inherited metabolic disease

authors： Francisco R,Pascoal C,Marques-da-Silva D,Morava E,Gole GA,Coman D,Jaeken J,Dos Reis Ferreira V

更新日期：2019-01-01 00:00:00

abstract：:Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized by infancy onset sensorineural deafness and ponto-bulbar palsy. Mutations in SLC52A3 (formerly C20orf54), coding for riboflavin transporter 2 (hRFT2), have been identified as the molecular genetic correlate in several ...

journal_title：Journal of inherited metabolic disease

authors： Haack TB,Makowski C,Yao Y,Graf E,Hempel M,Wieland T,Tauer U,Ahting U,Mayr JA,Freisinger P,Yoshimatsu H,Inui K,Strom TM,Meitinger T,Yonezawa A,Prokisch H

更新日期：2012-11-01 00:00:00

abstract：:A small-for-date infant presented at birth with severe non-immune hydrops, cardiac failure, metabolic acidosis and hypoglycaemia. Ultrasonography disclosed a cardiomyopathy. Initial therapy consisting of artificial ventilation, inotropes and diuretics resulted in partial disappearance of oedema without significant imp...

journal_title：Journal of inherited metabolic disease

authors： Steenhout P,Elmer C,Clercx A,Blum D,Gnat D,van Erum S,Vertongen F,Vamos E

更新日期：1990-01-01 00:00:00

abstract：:Recently a striking elevation of the activity of chitotriosidase, an endo beta-glucosaminidase distinct from lysozyme, was found in plasma from patients with Gaucher type I disease (McKusick 230800). Plasma chitotriosidase originates from activated macrophages and this elevation is secondary to the basic defect in Gau...

journal_title：Journal of inherited metabolic disease

authors： Guo Y,He W,Boer AM,Wevers RA,de Bruijn AM,Groener JE,Hollak CE,Aerts JM,Galjaard H,van Diggelen OP

更新日期：1995-01-01 00:00:00

abstract：:Newborn screening (NBS) for cystic fibrosis (CF) offers the opportunity for early diagnosis and improved outcomes in patients with CF and has been universally available in the state of Massachusetts since 1999 using an immunoreactive trypsinogen (IRT)-DNA algorithm. Ideally, CF NBS is incorporated as part of an integr...

journal_title：Journal of inherited metabolic disease

authors： Hale JE,Parad RB,Dorkin HL,Gerstle R,Lapey A,O'Sullivan BP,Spencer T,Yee W,Comeau AM

更新日期：2010-10-01 00:00:00