Next-generation glycogen storage diseases.

abstract：:A patient with a severe neonatal variant of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is reported. The first child of healthy consanguineous Turkish parents presented on the second day of life with dehydration, cyanosis, no sucking, generalized muscular hypotonia, encephalopathy, respiratory depression requiri...

journal_title：Journal of inherited metabolic disease

authors： Baykal T,Gokcay GH,Ince Z,Dantas MF,Fowler B,Baumgartner MR,Demir F,Can G,Demirkol M

更新日期：2005-01-01 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：OBJECTIVE:To analyse diagnostic value of somato-sensory evoked potentials (SEP), magnetic resonance imaging (MRI), and clinical neurological examination in the decision for decompression surgery in mucopolysaccharidosis (MPS) VI patients with craniocervical cord compression (CCJ). METHODS:We retrospectively analysed n...

journal_title：Journal of inherited metabolic disease

authors： Lampe C,Lampe C,Schwarz M,Müller-Forell W,Harmatz P,Mengel E

更新日期：2013-11-01 00:00:00

abstract：:Hawkinsinuria is a rare disorder of tyrosine metabolism that can manifest with metabolic acidosis and growth arrest around the time of weaning off breast milk, typically followed by spontaneous resolution of symptoms around 1 year of age. The urinary metabolites hawkinsin, quinolacetic acid, and pyroglutamic acid can ...

journal_title：Journal of inherited metabolic disease

authors： Gomez-Ospina N,Scott AI,Oh GJ,Potter D,Goel VV,Destino L,Baugh N,Enns GM,Niemi AK,Cowan TM

更新日期：2016-11-01 00:00:00

abstract：:Mutations in β-glucosidase (GBA1) are the most common genetic risk factor for Parkinson disease (PD). There is evidence to suggest that PD risk is greater (1) in GBA1 heterozygotes with non-N370S GBA1 mutations compared to N370S mutations and (2) in GD type 1 (GD1) patients compared to GBA1 heterozygotes. This study a...

journal_title：Journal of inherited metabolic disease

authors： Barrett MJ,Giraldo P,Capablo JL,Alfonso P,Irun P,Garcia-Rodriguez B,Pocovi M,Pastores GM

更新日期：2013-05-01 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：:Fabry disease is an X-linked glycosphingolipid storage disorder caused by a deficiency of alpha-galactosidase A. Affected patients experience debilitating neuropathic pain and have premature mortality due to renal failure, cardiovascular disease or cerebrovascular complications. The disease may be X-linked dominant, s...

journal_title：Journal of inherited metabolic disease

authors： Baehner F,Kampmann C,Whybra C,Miebach E,Wiethoff CM,Beck M

更新日期：2003-01-01 00:00:00

abstract：:Early signs of renal dysfunction in glycogen storage disease type Ia (GSD Ia) are glomerular hyperfiltration and proteinuria. In a non-randomized study, the effect of captopril on the improvement of proteinuria in GSD Ia patients with microalbuminuria was investigated. A positive effect has been shown for the insulin-...

journal_title：Journal of inherited metabolic disease

authors： Ozen H,Ciliv G,Koçak N,Saltik IN,Yüce A,Gürakan F

更新日期：2000-07-01 00:00:00

abstract：:In a series of 137 patients with methylmalonic acidaemia (MMA) and propionic acidaemia (PA) diagnosed since the early 1970s, we report in more detail 81 patients (51 MMA and 30 PA) diagnosed between 1988 and 2005. In this series, 14% of patients died at initial access revealing the disease before or despite treatment,...

journal_title：Journal of inherited metabolic disease

authors： Touati G,Valayannopoulos V,Mention K,de Lonlay P,Jouvet P,Depondt E,Assoun M,Souberbielle JC,Rabier D,Ogier de Baulny H,Saudubray JM

更新日期：2006-04-01 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：: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：:The differential diagnosis of patients with apparent congenital lactic acidoses poses one of the most intractable problems in the study of patients with disorders of organic acid metabolism. An outline of the factors leading to a lactic acidosis, particularly in infants and young children, together with a brief review...

journal_title：Journal of inherited metabolic disease

authors： Chalmers RA

更新日期：1984-01-01 00:00:00

abstract：:Concentrations of free dolichol, total non-phosphorylated dolichol, and total phosphorylated dolichol were measured in autopsy specimens of brain and liver from ceroid-lipofuscinosis (CL) and control cases. Levels of non-phosphorylated dolichol, mainly as free dolichol, were increased approximately two-fold in late-in...

journal_title：Journal of inherited metabolic disease

authors： Hall NA,Patrick AD

更新日期：1985-01-01 00:00:00

abstract：:Methylmalonate (MMA) accumulates in the tissues of patients with methylmalonic acidaemia, who present severe neurological signs soon after birth and later mental retardation. Attempting to understand the pathophysiology of the disorder, we investigated the effects of MMA on brain glucose uptake, lactate release and CO...

journal_title：Journal of inherited metabolic disease

authors： Wajner M,Dutra JC,Cardoso SE,Wannmacher CM,Motta ER

更新日期：1992-01-01 00:00:00

abstract：:Patients with MPS IV have a clinical disorder quite different from other MPS conditions. The major treatment issue revolves around the prevention of cervical myelopathy, although the other aspects of this multisystem disease should not be forgotten. Management is inevitably multidisciplinary and the paediatrician shou...

journal_title：Journal of inherited metabolic disease

authors： Northover H,Cowie RA,Wraith JE

更新日期：1996-01-01 00:00:00

abstract：:Lesch-Nyhan disease (LND) is caused by complete deficiency of the hypoxanthine-guanine phosphoribosyltransferase enzyme. It is characterized by overproduction of uric acid, jointly with severe motor disability and self-injurious behaviour which physiopathology is unknown. These neurological manifestations suggest a dy...

journal_title：Journal of inherited metabolic disease

authors： García MG,Puig JG,Torres RJ

更新日期：2012-11-01 00:00:00

abstract：:Classic galactosemia is an autosomal recessive disorder caused by deficient galactose-1-phosphate uridylyltransferase (GALT) activity. Patients develop symptoms in the neonatal period, which can be ameliorated by dietary restriction of galactose. Many patients develop long-term complications, with a broad range of cli...

journal_title：Journal of inherited metabolic disease

authors： Coelho AI,Ramos R,Gaspar A,Costa C,Oliveira A,Diogo L,Garcia P,Paiva S,Martins E,Teles EL,Rodrigues E,Cardoso MT,Ferreira E,Sequeira S,Leite M,Silva MJ,de Almeida IT,Vicente JB,Rivera I

更新日期：2014-01-01 00:00:00

abstract：:Menkes disease (MD) is a neurodegenerative disorder characterized by a copper deficiency in the brain. It is caused by the defective intestinal absorption of copper resulting from a deficiency of a copper-transporting ATPase, ATP7A. This gives rise to an accumulation of copper in the intestine. The copper deficiency i...

journal_title：Journal of inherited metabolic disease

authors： Kodama H,Sato E,Gu YH,Shiga K,Fujisawa C,Kozuma T

更新日期：2005-01-01 00:00:00

abstract：:We report a new constellation of clinical features consisting of hypermanganesaemia, liver cirrhosis, an extrapyramidal motor disorder and polycythaemia in a 12 year-old girl born to consanguineous parents. Blood manganese levels were >3000 nmol/L (normal range <320 nmol/L) and MRI revealed signal abnormalities of the...

journal_title：Journal of inherited metabolic disease

authors： Tuschl K,Mills PB,Parsons H,Malone M,Fowler D,Bitner-Glindzicz M,Clayton PT

更新日期：2008-04-01 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：:The different long-chain fatty acid oxidation defects present with similar heterogeneous clinical phenotypes of different severity. Organs mainly affected comprise the heart, liver, and skeletal muscles. All symptoms are reversible with sufficient energy supply. In some long-chain fatty acid oxidation defects, disease...

journal_title：Journal of inherited metabolic disease

authors： Spiekerkoetter U

更新日期：2010-10-01 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：:Transcobalamin (transcobalamin II, TC) transports plasma vitamin B(12) (cobalamin, Cbl) into cells. TC deficiency is a rare autosomal recessive disorder causing intracellular Cbl depletion, which in turn causes megaloblastic bone marrow failure, accumulation of homocysteine and methylmalonic acid, and methionine deple...

journal_title：Journal of inherited metabolic disease

authors： Schiff M,Ogier de Baulny H,Bard G,Barlogis V,Hamel C,Moat SJ,Odent S,Shortland G,Touati G,Giraudier S

更新日期：2010-06-01 00:00:00

abstract：:The lipid composition or the liver, spleen, brain, cerebellum and cerebrospinal fluid of a Gaucher disease type II patient who died at the age of 5 months was examined. The glycolipid analysis demonstrated a marked increase of total amounts not only in the peripheral tissues but also in the brain cerebellum and cerebr...

journal_title：Journal of inherited metabolic disease

authors： Gornati R,Berra B,Montorfano G,Martini C,Ciana G,Ferrari P,Romano M,Bembi B

更新日期：2002-02-01 00:00:00

abstract：:In three untreated patients with phenylketonuria (PKU), three PKU and six hyperphenylalaninaemic (HPA) patients in good metabolic control, the kinetic constants of platelet in vitro uptake of [14C]serotonin (5HT) did not significantly differ from those in 12 control subjects matched for age. The platelet concentration...

journal_title：Journal of inherited metabolic disease

authors： Giovannini M,Valsasina R,Longhi R,Cesura AM,Galva MD,Riva E,Bondiolotti GP,Picotti GB

更新日期：1988-01-01 00:00:00

abstract：:Plasma total homocysteine (tHcy) determination is used in the diagnosis of homocystinuria, in cobalamin and folate deficiency and in cardiovascular risk assessment. However, determination of tHcy includes many pitfalls which complicate the assessment of homocysteine status. In the present article, we review basic know...

journal_title：Journal of inherited metabolic disease

authors： Refsum H,Fiskerstrand T,Guttormsen AB,Ueland PM

更新日期：1997-06-01 00:00:00

abstract：:Transaldolase (TAL) is an enzyme in the pentose phosphate pathway (PPP) that generates NADPH for protection against oxidative stress. While deficiency of other PPP enzymes, such as transketolase (TKT), are incompatible with mammalian cell survival, mice lacking TAL are viable and develop progressive liver disease attr...

journal_title：Journal of inherited metabolic disease

authors： Oaks Z,Jimah J,Grossman CC,Beckford M,Kelly R,Banerjee S,Niland B,Miklossy G,Kuloglu Z,Kansu A,Lee W,Szonyi L,Banki K,Perl A

更新日期：2020-05-01 00:00:00

abstract：:Tandem mass spectrometry (MS/MS) is a highly sensitive and specific technique. Thanks to the development of triple quadrupole analyzers, it is becoming more widely used in laboratories working in the field of inborn errors of metabolism. We review here the state of the art of this technique applied to the diagnosis of...

journal_title：Journal of inherited metabolic disease

authors： Piraud M,Pettazzoni M,Lavoie P,Ruet S,Pagan C,Cheillan D,Latour P,Vianey-Saban C,Auray-Blais C,Froissart R

更新日期：2018-05-01 00:00:00

abstract：:Hurler-Scheie syndrome is caused by alpha-l-iduronidase deficiency. Enzyme replacement therapy (ERT) can improve physical capacity and reduces organomegaly. However, the effect on bradytrophic connective tissue is limited. As intravenously administered enzyme cannot cross the blood-brain barrier, the therapy of choice...

journal_title：Journal of inherited metabolic disease

authors： Illsinger S,Lücke T,Hartmann H,Mengel E,Müller-Forell W,Donnerstag F,Das AM

更新日期：2009-12-01 00:00:00

abstract：:A case of pyruvate dehydrogenase E3 binding protein deficiency is reported in a 24-year-old male with encephalomyopathy. Blood lactate was only minimally elevated, as was alanine. ...

journal_title：Journal of inherited metabolic disease

authors： Hargreaves IP,Heales SJ,Briddon A,Lee PJ,Hanna MG,Land JM

更新日期：2003-01-01 00:00:00