Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine.

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：: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：: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：:Techniques for studying metabolic events in vivo in patients with inborn errors are reviewed. Loading or provocation tests that have been used widely are insensitive and frequently non-specific. Compounds labelled with stable isotopes can be used to study enzyme kinetics and substrate turnover, providing more detailed...

journal_title：Journal of inherited metabolic disease

authors： Leonard JV,Thompson GN

更新日期：1991-01-01 00:00:00

abstract：OBJECTIVE:Acyl-CoA oxidase (ACOX1) deficiency is a rare disorder of peroxisomal very-long chain fatty acid oxidation. No reports detailing attempted treatment, longitudinal imaging, or neuropathology exist. We describe the natural history of clinical symptoms and brain imaging in two siblings with ACOX1 deficiency, inc...

journal_title：Journal of inherited metabolic disease

authors： Wang RY,Monuki ES,Powers J,Schwartz PH,Watkins PA,Shi Y,Moser A,Shrier DA,Waterham HR,Nugent DJ,Abdenur JE

更新日期：2014-09-01 00:00:00

abstract：:Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually manifests as a multisystem disease. Most patients pr...

journal_title：Journal of inherited metabolic disease

authors： Altassan R,Radenkovic S,Edmondson AC,Barone R,Brasil S,Cechova A,Coman D,Donoghue S,Falkenstein K,Ferreira V,Ferreira C,Fiumara A,Francisco R,Freeze H,Grunewald S,Honzik T,Jaeken J,Krasnewich D,Lam C,Lee J,Lefeber

更新日期：2021-01-01 00:00:00

abstract：:A battery of self-report psychosocial measures was mailed to 116 patients who had been referred for clinical management (clinic attenders) or laboratory diagnosis (non-clinic attenders) to the London Supraregional Assay Service Centre for Porphyria over the past decade and who tested positive for porphyria. Usable rep...

journal_title：Journal of inherited metabolic disease

authors： Millward LM,Kelly P,Deacon A,Senior V,Peters TJ

更新日期：2001-12-01 00:00:00

abstract：:A biochemical variant of argininosuccinate lyase deficiency, found in five individuals, is introduced. In comparison to classical patients, the variant cases of argininosuccinate lyase deficiency were characterized by residual enzyme activity as measured by the incorporation of [14C]citrulline into proteins. The five ...

journal_title：Journal of inherited metabolic disease

authors： Kleijer WJ,Garritsen VH,Linnebank M,Mooyer P,Huijmans JG,Mustonen A,Simola KO,Arslan-Kirchner M,Battini R,Briones P,Cardo E,Mandel H,Tschiedel E,Wanders RJ,Koch HG

更新日期：2002-09-01 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

abstract：OBJECTIVE:Current available evidence on long-term effectiveness of enzyme replacement therapy (ERT) for Fabry disease is limited. More insight is needed whether ERT effectiveness differs in patients with and without baseline end-organ damage. DESIGN:Through a systematic review, untreated and ERT treated males and fema...

journal_title：Journal of inherited metabolic disease

authors： Rombach SM,Smid BE,Linthorst GE,Dijkgraaf MG,Hollak CE

更新日期：2014-05-01 00:00:00

abstract：OBJECTIVE:To assess clinical features and general health status of adult patients with mucopolysaccharidosis (MPS) VI. METHODS:This report includes the clinical history of patients older than 18 years with slowly progressing MPS VI and the retrospective analysis of the outcomes of available data collected between Sept...

journal_title：Journal of inherited metabolic disease

authors： Thümler A,Miebach E,Lampe C,Pitz S,Kamin W,Kampmann C,Link B,Mengel E

更新日期：2012-11-01 00:00:00

abstract：:Urea and creatinine were measured by Kodak Ektachem methods and methylmalonic acid by stable-isotope gas chromatography-mass spectrometry in 24 urine samples from patients with methylmalonic acidaemia. For each sample analyses were performed both directly on the liquid urine and on an aliquot which had been blotted on...

journal_title：Journal of inherited metabolic disease

authors： Parnet JM,Divry P,Vianey-Saban C,Mathieu M

更新日期：1996-01-01 00:00:00

abstract：:We describe two patients affected by Barth syndrome. Their symptoms became manifest on respectively the third and first day of their lives. Clinical presentation included poor sucking, lethargy, hypotonia, hypothermia and cardiomyopathy. Laboratory findings such as hypoglycaemia, metabolic acidosis, elevated transamin...

journal_title：Journal of inherited metabolic disease

authors： Donati MA,Malvagia S,Pasquini E,Morrone A,La Marca G,Garavaglia B,Toniolo D,Zammarchi E

更新日期：2006-10-01 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：:Pyrroline-5-carboxylate reductase 1 (PYCR1) catalyzes the last step in proline synthesis. Deficiency of PYCR1, caused by a defect in PYCR1, was recently described in patients with cutis laxa, intrauterine growth retardation, developmental dysplasia of the hips and mental retardation. In this paper, we describe additio...

journal_title：Journal of inherited metabolic disease

authors： Kretz R,Bozorgmehr B,Kariminejad MH,Rohrbach M,Hausser I,Baumer A,Baumgartner M,Giunta C,Kariminejad A,Häberle J

更新日期：2011-06-01 00:00:00

abstract：:In a few rare diseases, specialised studies in cerebrospinal fluid (CSF) are required to identify the underlying metabolic disorder. We aimed to explore the possibility of detecting key synaptic proteins in the CSF, in particular dopaminergic and gabaergic, as new procedures that could be useful for both pathophysiolo...

journal_title：Journal of inherited metabolic disease

authors： Duarte ST,Ortez C,Pérez A,Artuch R,García-Cazorla A

更新日期：2011-04-01 00:00:00

abstract：:We report a 31 year old woman who had prenatal carrier screening for Ashkenazi Jewish (AJ) genetic diseases and was found to have two acid ß-glucosidase (GBA) mutations, c.1226A>G(p.N370S) and c.1448T>C(p.L444P), consistent with the diagnosis of Type 1 Gaucher disease (GD1). This genotype typically manifests in late-a...

journal_title：Journal of inherited metabolic disease

authors： Balwani M,Grace ME,Desnick RJ

更新日期：2011-06-01 00:00:00

abstract：:Transcobalamin (TC) transports cobalamin from blood into cells. TC deficiency is a rare autosomal recessive disorder usually presenting in early infancy with failure to thrive, weakness, diarrhoea, pallor, anemia, and pancytopenia or agammaglobulinemia. It can sometimes resemble neonatal leukemia or severe combined im...

journal_title：Journal of inherited metabolic disease

authors： Trakadis YJ,Alfares A,Bodamer OA,Buyukavci M,Christodoulou J,Connor P,Glamuzina E,Gonzalez-Fernandez F,Bibi H,Echenne B,Manoli I,Mitchell J,Nordwall M,Prasad C,Scaglia F,Schiff M,Schrewe B,Touati G,Tchan MC,Varet B

更新日期：2014-05-01 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：: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：BACKGROUND:Methylmalonic acidemia and intracellular cobalamin metabolism disorders represent a heterogeneous group of inborn errors of metabolism. Most patients will require diagnostic and/or therapeutic procedures frequently requiring sedation or anesthetic management due to neurological and neurocognitive impairments...

journal_title：Journal of inherited metabolic disease

authors： Ktena YP,Ramstad T,Baker EH,Sloan JL,Mannes AJ,Manoli I,Venditti CP

更新日期：2015-09-01 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：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：:Cystathionine beta synthase (CBS) deficiency is a recessive inborn error of metabolism characterized by elevated serum total homocysteine (tHcy). Betaine supplementation, which can lower tHcy by stimulating homocysteine remethylation to methionine, is often given to CBS deficient patients in combination with other tre...

journal_title：Journal of inherited metabolic disease

authors： Gupta S,Wang L,Kruger WD

更新日期：2016-01-01 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：:Mucopolysaccharidoses (MPS) are a group of lysosomal storage diseases caused by mutations in lysosomal enzymes involved in degradation of glycosaminoglycans (GAGs). Patients with MPS grow poorly and become physically disabled due to systemic bone disease. While many of the major skeletal effects in mouse models for MP...

journal_title：Journal of inherited metabolic disease

authors： Rowan DJ,Tomatsu S,Grubb JH,Montaño AM,Sly WS

更新日期：2013-03-01 00:00:00

abstract：:Two sisters were investigated at the ages of 20 and 13 years owing to persistently increased serum creatine kinase and recurrent episodes of rhabdomyolysis after emotional stress in the older and myalgias in the younger. The finding of increased levels of cis-5-tetradecenoic acid (C14:1) in plasma, severe hypocarnitin...

journal_title：Journal of inherited metabolic disease

authors： Merinero B,Pascual Pascual SI,Pérez-Cerdá C,Gangoiti J,Castro M,Garcia MJ,Pascual Castroviejo I,Vianey-Saban C,Andresen B,Gregersen N,Ugarte M

更新日期：1999-10-01 00:00:00

abstract：:This study reports three novel mutations of the methionine adenosyltransferase (MAT) lA gene and confirms that hyperhomocysteinaemia may be a characteristic finding in MAT I/III deficiency. Thus, MAT I/III deficiency is important in the differential diagnoses of hyperhomocysteinaemia, which may lead to clinical compli...

journal_title：Journal of inherited metabolic disease

authors： Linnebank M,Lagler F,Muntau AC,Röschinger W,Olgemöller B,Fowler B,Koch HG

更新日期：2005-01-01 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：: ...

journal_title：Journal of inherited metabolic disease

authors： García-Cazorla À,Artuch R,Bayès À

更新日期：2018-11-01 00:00:00