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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：: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

abstract：:Defects in a pathway as complex as the electron transport chain cause a variety of clinical abnormalities, which vary from fatal lactic acidosis in infancy to mild muscle disease in adults. The primary defect may reside in the nucleus or the mitochondrial genome. Until relatively recently, biochemical assays were the ...

journal_title：Journal of inherited metabolic disease

authors： Adams PL,Turnbull DM

更新日期：1996-01-01 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 describe three patients with congenital disorder of glycosylation (CDG) type Ia, all of whom had persistent hyperinsulinaemic hypoglycaemia responding to diazoxide therapy as a common feature. The first patient, an infant girl, presented with recurrent vomiting, failure to thrive, liver impairment, hypothyroidism a...

journal_title：Journal of inherited metabolic disease

authors： Shanti B,Silink M,Bhattacharya K,Howard NJ,Carpenter K,Fietz M,Clayton P,Christodoulou J

更新日期：2009-12-01 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：:Glycogen storage disease type I (GSD I) is characterized by impaired production of glucose from glycogenolysis and gluconeogenesis resulting in severe fasting hypoglycaemia. The aim of the present study was to examine the efficacy of a continuous subcutaneous glucose monitoring system (CGMS MiniMed), to determine the ...

journal_title：Journal of inherited metabolic disease

authors： Hershkovitz E,Rachmel A,Ben-Zaken H,Phillip M

更新日期：2001-12-01 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：: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：:Mucopolysaccharidosis type III (MPS III) or Sanfilippo disease is an orphan inherited lysosomal storage disease and one of the most common MPS subtypes. The classical presentation is an infantile-onset neurodegenerative disease characterised by intellectual regression, behavioural and sleep disturbances, loss of ambul...

journal_title：Journal of inherited metabolic disease

authors： Seker Yilmaz B,Davison J,Jones SA,Baruteau J

更新日期：2021-01-01 00:00:00

abstract：:Early diagnosis and improved treatment are leading to the potential for increased reproductive capability in homocystinuria due to cystathionine beta-synthase (CbetaS) deficiency, but information about reproductive outcome and risk of thromboembolism in pregnancy is limited. To provide further information, clinical an...

journal_title：Journal of inherited metabolic disease

authors： Levy HL,Vargas JE,Waisbren SE,Kurczynski TW,Roeder ER,Schwartz RS,Rosengren S,Prasad C,Greenberg CR,Gilfix BM,MacGregor D,Shih VE,Bao L,Kraus JP

更新日期：2002-08-01 00:00:00

abstract：:The carbohydrate-deficient glycoprotein (CDG) syndrome in its most severe form (neonatal olivopontocerebellar atrophy) is a life-threatening multisystem disease. We report a neonate who was referred for cardiological assessment because of respiratory distress, a murmur and episodes of desaturation. After initial spont...

journal_title：Journal of inherited metabolic disease

authors： Clayton PT,Winchester BG,Keir G

更新日期：1992-01-01 00:00:00

abstract：:Massive production and accumulation of a single abnormal protein may constitute a major toxic burden for the cell and even compromise the organism's long-term viability. Consequently, adaptation and survival have forced evolution to create 'quality control' mechanisms that detect, monitor, and often degrade such abnor...

journal_title：Journal of inherited metabolic disease

authors： Amaral MD

更新日期：2006-04-01 00:00:00

abstract：:Latin America includes more than 40 countries and possessions, and its population of 570 million has an important representation of the three main human races. The area is experiencing an economic improvement, progressively bringing the inborn errors of metabolism (IEM) to a higher level among health priorities. Chall...

journal_title：Journal of inherited metabolic disease

authors： Giugliani R

更新日期：2010-10-01 00:00:00

abstract：:By using ion-exchange chromatography and gas chromatography coupled with mass spectrometry, the content of phenylalanine, tyrosine and their metabolites typical of phenylketonuria (PKU) was determined in the cerebrospinal fluid (CSF) of 8 untreated children with classical PKU and 9 controls. At the same time, plasma a...

journal_title：Journal of inherited metabolic disease

authors： Antoshechkin AG,Chentsova TV,Tatur VYu,Naritsin DB,Railian GP

更新日期：1991-01-01 00:00:00

abstract：:A new French-Canadian family from the province of Quebec is reported, in which a male child was diagnosed as hyperargininaemic after showing positive tests for cystinuria on neonatal screening. The child has no residual activity of erythrocyte arginase, and a plasma arginine level of 633 mumol/l. Both parents have 32-...

journal_title：Journal of inherited metabolic disease

authors： Qureshi IA,Letarte J,Ouellet R,Larochelle J,Lemieux B

更新日期：1983-01-01 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：: ...

journal_title：Journal of inherited metabolic disease

authors： Derks TGJ,Oosterveer MH,De Souza CF

更新日期：2018-11-01 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：:Isolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe neurological impairment. As no long-term effective treatment is available, distinction from other treatable diseases, such as molybdenum cofactor deficiency (MoCD) type A, should be made. We reviewed 4...

journal_title：Journal of inherited metabolic disease

authors： Claerhout H,Witters P,Régal L,Jansen K,Van Hoestenberghe MR,Breckpot J,Vermeersch P

更新日期：2018-01-01 00:00:00

abstract：:A new variant of glycogen storage disease (GSD) Type 1, with clinical symptoms and laboratory findings consistent with those of glucose-6-phosphatase (G6Pase) deficiency, is described. Assay of G6Pase in liver from the patient immediately after biopsy by the method of Nordlie and Arion gave low activity (0.8 mumol/min...

journal_title：Journal of inherited metabolic disease

authors： Igarashi Y,Otomo H,Narisawa K,Tada K

更新日期：1980-01-01 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：:Leigh syndrome is a neurodegenerative disorder of infancy or childhood generally due to mutations in nuclear or mitochondrial genes involved in mitochondrial energy metabolism. We performed linkage analysis in an Ashkenazi Jewish (AJ) family without consanguinity with three affected children. Linkage to microsatellite...

journal_title：Journal of inherited metabolic disease

authors： Anderson SL,Chung WK,Frezzo J,Papp JC,Ekstein J,DiMauro S,Rubin BY

更新日期：2008-12-01 00:00:00

abstract：:Cobalamin C (Cbl-C) defect is the most common inborn cobalamin metabolism error; it causes impaired conversion of dietary vitamin B12 into its two metabolically active forms, methylcobalamin and adenosylcobalamin. Cbl-C defect causes the accumulation of methylmalonic acid and homocysteine and decreased methionine synt...

journal_title：Journal of inherited metabolic disease

authors： Martinelli D,Deodato F,Dionisi-Vici C

更新日期：2011-02-01 00:00:00

abstract：:Electron micrographs of fibroblasts of an HHH-syndrome patient showed abnormal structures, similar, but not identical, to those observed in the liver of such patients. It is suggested that incorporation of a mutated protein into the inner mitochondrial membrane gives rise to a rearrangement of that membrane, resulting...

journal_title：Journal of inherited metabolic disease

authors： Metoki K,Hommes FA,Dyken P,Kelloes C,Trefz J

更新日期：1984-01-01 00:00:00

abstract：:Insulinaemia and glucagonaemia were measured in two cases of hypercholesterolaemia type II, before and after portacaval shunt. The results show an increase of both hormones although these variations are not concomitant with the decrease in cholesterolaemia. The data still do not explain the mechanism of the decrease. ...

journal_title：Journal of inherited metabolic disease

authors： Farriaux JP,Luyckx AS,Ribet M

更新日期：1980-01-01 00:00:00

abstract：:Mucopolysaccharidoses are autosomal and recessive lysosomal storage disorders caused by the deficiency of a lysosomal enzyme involved in glycosaminoglycan catabolism. The Sanfilippo type A disease (MPS III A) results from sulfamidase deficiency, which leads to accumulation of heparan sulfate, whereas Sly disease (MPS ...

journal_title：Journal of inherited metabolic disease

authors： Arfi A,Richard M,Gandolphe C,Scherman D

更新日期：2010-02-01 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：:Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid beta-glucosidase. The most prevalent mutant genotype in type I Gaucher disease, N370S/N370S, is commonly thought to confer a mild phenotype presenting in adulthood. To characterize a subset of more severely affected N370S homozyg...

journal_title：Journal of inherited metabolic disease

authors： Fairley C,Zimran A,Phillips M,Cizmarik M,Yee J,Weinreb N,Packman S

更新日期：2008-12-01 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