Rapid healing of a patient with dramatic subacute combined degeneration of spinal cord: a case report [PDF]
, 2017 Background: Prevalence of cobalamin deficiency is high especially in older patients and an immediate therapy start is necessary to prevent irreversible neurological damages. Unfortunately, the diagnosis of cobalamin deficiency is difficult and at present,
Roessler, Florian C., Wolff, Stephanie
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Defects in Human Methionine Synthase in cblG Patients [PDF]
, 2017 Inborn errors resulting in isolated functional methionine synthase deficiency fall into two complementation groups, cblG and cblE. Using biochemical approaches we demonstrate that one cblG patient has greatly reduced levels of methionine synthase while ...
Baker, Priscilla +6 more
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Causes of and diagnostic approach to methylmalonic acidurias [PDF]
, 2018 Summary: Several mutant genetic classes that cause isolated methylmalonic acidurias (MMAuria) are known based on biochemical, enzymatic and genetic complementation analysis. The mut0 and mut− defects result from deficiency of MMCoA mutase apoenzyme which
Baumgartner, M., Fowler, B., Leonard, J.
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Newborn screening using tandem mass spectrometry: A systematic review [PDF]
Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).
Beverley, C. +4 more
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Commentary on North Western Health Board v HW and CW (the PKU case) [PDF]
, 2016 Should the state administer a medical screening test on a child against the wishes of the family? The parents in this case refused to allow a test which would have involved taking a pinprick of blood from the child in order to test for certain metabolic ...
Coffey, Donal, Harding, Maebh
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Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism [PDF]
, 2017 The cblD defect of intracellular vitamin B12 metabolism can lead to isolated methylmalonic aciduria (cblD-MMA) or homocystinuria (cblD-HC), or combined methylmalonic aciduria and homocystinuria (cblD-MMA/HC).
Baumgartner, Matthias R. +5 more
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Population Screening for Genetic Disease [PDF]
, 1977 Recent advances in genetics and laboratory techniques have raised difficult issues for both the medical and lay communities. The desirability of initiating population screening programs is an example of one such issue that has engendered considerable ...
Mamunes, Peter
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The prevalence of phenylketonuria among children with mental retardation in Kelantan [PDF]
, 2001 The prevalence of phenylketonuria (PKU) in Malaysia to date is not known since no study has been conducted to address the subject. The objectives of this study were to determine the prevalence of PKU among the mentally retarded children in Kelantan, to ...
Omar, Julia
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ON THE ROLE OF CYSTATHIONINE-γ-LYASE IN MODULATING TRANSSULFURATION PATHWAY IN THE LENS [PDF]
In Mammals transsulfuration pathway enables the conversion of homocysteine (Hcy), deriving from methionine (Met) transmetilation, into cysteine (Cys) through two steps, the first catalyzed by cystathionine β-synthase (CBS) and the second one by ...
CALVANI, ENRICA
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Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells [PDF]
, 2017 The prevalent c.903+469T>C mutation in MTRR causes the cblE type of homocystinuria by strengthening an SRSF1 binding site in an ESE leading to activation of a pseudoexon.
Andersen, Henriette Skovgaard +12 more
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