Primary pyruvate dehydrogenase E3 binding protein deficiency with mild hyperlactataemia and hyperalaninaemia.

abstract：:There are two mechanisms for glucose transport across cell membranes. In the intestine and renal proximal tubule, glucose is transported against a concentration gradient by a secondary active transport mechanism in which glucose is cotransported with sodium ions. In all other cells, glucose transport is mediated by on...

journal_title：Journal of inherited metabolic disease

authors： Brown GK

更新日期：2000-05-01 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：:We report on our 6-year experience of expanded newborn screening by tandem mass spectrometry in Tuscany (Italy), the first Italian Region to screen all newborns for more than 40 inborn errors of metabolism: organization, diseases observed and updates on methods to reduce false-positive and false-negative tests are des...

journal_title：Journal of inherited metabolic disease

authors： la Marca G,Malvagia S,Casetta B,Pasquini E,Donati MA,Zammarchi E

更新日期：2008-12-01 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：:The extent of hydroxylation of proline in collagen synthesized and secreted into the culture medium by skin fibroblasts derived from a patient with prolidase deficiency has been examined and found to be normal. It would seem likely that to a considerable extent the urinary proline-containing dipeptides apparent in thi...

journal_title：Journal of inherited metabolic disease

authors： Royce PM,Danks DM

更新日期：1982-01-01 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：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：BACKGROUND:Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism (IEM) due to mutations in the CYP27A1 gene. The clinical picture ranges from being nearly asymptomatic in early childhood, up to severe disability at adult age. Infantile-onset diarrhea and juvenile-onset ca...

journal_title：Journal of inherited metabolic disease

authors： Stelten BML,Bonnot O,Huidekoper HH,van Spronsen FJ,van Hasselt PM,Kluijtmans LAJ,Wevers RA,Verrips A

更新日期：2018-07-01 00:00:00

abstract：:Erythrocyte thiamin metabolism and transport were investigated in 7 patients from Brazil, Israel and Italy suffering from thiamin-responsive megaloblastic anaemia (TRMA) associated with diabetes mellitus and sensorineural deafness. All patients discontinued thiamin therapy for 4-7 days before the investigation. TRMA p...

journal_title：Journal of inherited metabolic disease

authors： Rindi G,Patrini C,Laforenza U,Mandel H,Berant M,Viana MB,Poggi V,Zarra AN

更新日期：1994-01-01 00:00:00

abstract：BACKGROUND:Internet searches on health topics are common, but not enough is known about online use during serious health concerns. The aim of this study was to investigate parents' internet use and responses to online information following the referral of their newborn screen-positive infants. METHODS:Forty-four paren...

journal_title：Journal of inherited metabolic disease

authors： DeLuca JM,Kearney MH,Norton SA,Arnold GL

更新日期：2012-09-01 00:00:00

abstract：:Genetic disorders of purine and pyrimidine (PP) metabolism are under-reported and infrequently mentioned in the general literature, as well as in reviews dedicated to other inborn errors of metabolism. Owing to limited awareness, relatively recent recognition, as well as considerable phenotypic variation, these disord...

journal_title：Journal of inherited metabolic disease

authors： Jurecka A

更新日期：2009-04-01 00:00:00

abstract：:A deficiency in phosphorylase kinase is responsible for several forms of glycogen storage disease which differ in heredity and affected tissues. This is so because phosphorylase kinase consists of four different subunits and has multiple tissue-specific isoforms. To elucidate the molecular basis of phosphorylase kinas...

journal_title：Journal of inherited metabolic disease

authors： Kilimann MW

更新日期：1990-01-01 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：: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：OBJECTIVE:There is an urgent need for reliable and universally applicable outcome measures for children with mitochondrial diseases. In this study, we aimed to adapt the currently available Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) to the International Paediatric Mitochondrial Disease Scale (IPMDS) durin...

journal_title：Journal of inherited metabolic disease

authors： Koene S,Hendriks JCM,Dirks I,de Boer L,de Vries MC,Janssen MCH,Smuts I,Fung CW,Wong VCN,de Coo IRFM,Vill K,Stendel C,Klopstock T,Falk MJ,McCormick EM,McFarland R,de Groot IJM,Smeitink JAM

更新日期：2016-09-01 00:00:00

abstract：:Alkaptonuria (AKU) is a rare genetic disease that affects the entire joint. Current standard of AKU treatment is palliative and little is known about its physiopathology. Neovascularization is involved in the pathogenesis of systemic inflammatory rheumatic diseases, a family of related disorders that includes AKU. Her...

journal_title：Journal of inherited metabolic disease

authors： Millucci L,Bernardini G,Marzocchi B,Braconi D,Geminiani M,Gambassi S,Laschi M,Frediani B,Galvagni F,Orlandini M,Santucci A

更新日期：2016-11-01 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：:Understanding the relationship between genotype and clinical phenotype will clearly aid in the prognosis, treatment and counselling of patients with lysosomal storage diseases (LSDs). This, however, will require the establishment of widely accepted indices with which to score the severity of LSDs, as these diseases ar...

journal_title：Journal of inherited metabolic disease

authors： Maire I

更新日期：2001-01-01 00:00:00

abstract：BACKGROUND:One major problem of using hypercholesterolaemia alone as a primary criterion for diagnosing familial hypercholesterolaemia (FH) is that 15-40% of relatives may be misdiagnosed because plasma lipid levels in FH heterozygotes overlap with those in the general population. SETTING:General Hospital/University o...

journal_title：Journal of inherited metabolic disease

authors： Widhalm K,Dirisamer A,Lindemayr A,Kostner G

更新日期：2007-04-01 00:00:00

abstract：:Deficiency of lysosomal α-L-iduronidase results in systemic accumulation of glycosaminoglycans (GAGs). Cardiac lesions due to accumulation of GAGs include hypertrophic cardiomyopathy, valvular insufficiency/stenosis, and coronary artery stenosis due to intimal proliferation. Cardiac dysfunction is one of the most comm...

journal_title：Journal of inherited metabolic disease

authors： Yano S,Moseley K,Pavlova Z

更新日期：2009-12-01 00:00:00

abstract：BACKGROUND:Observational reports suggest that supplementation that increases citric acid cycle intermediates via anaplerosis may have therapeutic advantages over traditional medium-chain triglyceride (MCT) treatment of long-chain fatty acid oxidation disorders (LC-FAODs) but controlled trials have not been reported. Th...

journal_title：Journal of inherited metabolic disease

authors： Gillingham MB,Heitner SB,Martin J,Rose S,Goldstein A,El-Gharbawy AH,Deward S,Lasarev MR,Pollaro J,DeLany JP,Burchill LJ,Goodpaster B,Shoemaker J,Matern D,Harding CO,Vockley J

更新日期：2017-11-01 00:00:00

abstract：:2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (EC 1.1.1.178) deficiency is a recently described defect of isoleucine catabolism. The disorder is characterized by normal early development followed by a progressive loss of mental and motor skills. Deterioration may be rapid or may follow a slower decline with a possible s...

journal_title：Journal of inherited metabolic disease

authors： Olpin SE,Pollitt RJ,McMenamin J,Manning NJ,Besley G,Ruiter JP,Wanders RJ

更新日期：2002-10-01 00:00:00

abstract：:Cholesterol is known to be a significant constituent of the central nervous system. It also plays an important role in developmental pathways to form the human brain, such as the Sonic Hedgehog pathway. Disturbances in the formation of cholesterol may therefore be expected to cause brain malformations and brain dysfun...

journal_title：Journal of inherited metabolic disease

authors： Hennekam RC

更新日期：2005-01-01 00:00:00

abstract：:S-Adenosylhomocysteine (S-AdoHcy) hydrolase activity in a lymphoblastoid cell line from a patient with adenosine deaminase deficiency disease (ADA(-)LCL) was found to be approximately 60% of that in ADA (+)lymphoblastoid cell lines. S-AdoHcy hydrolase of ADA(-)LCL was more sensitive to inhibition by 2'-deoxyadenosine ...

journal_title：Journal of inherited metabolic disease

authors： Tsuchiya S,Nakae S,Konno T,Tada K

更新日期：1981-01-01 00:00:00

abstract：:This study aimed to evaluate systematically the effect of the free use of fruits and vegetables containing an intermediate amount of phenylalanine (51-100 mg/100 g) on the biochemical control in children with phenylketonuria (PKU). Fifteen subjects with PKU, with a median age of 6 years (range 1-24 years) were studied...

journal_title：Journal of inherited metabolic disease

authors： MacDonald A,Rylance G,Davies P,Asplin D,Hall SK,Booth IW

更新日期：2003-01-01 00:00:00

abstract：:The congenital disorder of glycosylation, PMM2-CDG, is associated with progressive photoreceptor degeneration, which causes a pigmentary retinopathy. We identified a sibling pair, mildly affected with PMM2-CDG, who showed preserved photoreceptor function, but profound deficits of the 'on-pathway' in the retina. This l...

journal_title：Journal of inherited metabolic disease

authors： Thompson DA,Lyons RJ,Russell-Eggitt I,Liasis A,Jägle H,Grünewald S

更新日期：2013-11-01 00:00:00

abstract：BACKGROUND:Hearing loss (HL) is a well-known feature of Fabry disease (FD). Its presence and characteristics have mainly been studied in adult patients, while only limited data are available on the presence and degree of HL in children with FD. This prompted us to study hearing sensitivity in pediatric FD patients. ME...

journal_title：Journal of inherited metabolic disease

authors： Suntjens E,Dreschler WA,Hess-Erga J,Skrunes R,Wijburg FA,Linthorst GE,Tøndel C,Biegstraaten M

更新日期：2017-09-01 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：:We analysed the gene of the human alpha-subunit of liver phosphorylase kinase (PHKA2) in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1 by RT-PCR followed by PCR-single-strand conformation polymorphism and direct DNA sequencing. In this study, two novel mutations (Y116D and 2675A-->G...

journal_title：Journal of inherited metabolic disease

authors： Hirono H,Shoji Y,Takahashi T,Sato W,Takeda E,Nishijo T,Kuroda Y,Nishigaki T,Inui K,Takada G

更新日期：1998-12-01 00:00:00

abstract：:An adult patient with hereditary tyrosinaemia type I who developed renal failure is reported. She received a renal transplant at the age of 23 years. In childhood her kidney disease was dominated by multiple tubular defects with resulting hypophosphataemic rickets. Metabolic acidosis was the most prominent feature in ...

journal_title：Journal of inherited metabolic disease

authors： Kvittingen EA,Talseth T,Halvorsen S,Jakobs C,Hovig T,Flatmark A

更新日期：1991-01-01 00:00:00