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Article
Intrauterine Deckung von Myelomeningozelen
Seit einiger Zeit stehen 2 operative Verfahren zum intrauterinen „repair“ offener spinaler Dysraphien am Fetus zur Verfügung, die zunehmend eingesetzt werden.
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Article
Newborn screening for homocystinurias: recent recommendations versus current practice
To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations.
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Article
MRI and 1H-MRS in adenosine kinase deficiency
Adenosine kinase deficiency (ADK deficiency) is a recently described disorder of methionine and adenosine metabolism resulting in a neurological phenotype with developmental delay, muscular hypotonia, and epil...
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Article
Erratum zu: Metabolische Notfalltherapie
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Article
Metabolische Notfalltherapie
Die Erstsymptome einer angeborenen Stoffwechselkrankheit sind oft unspezifisch. Da akute Stoffwechselentgleisungen potenziell lebensbedrohliche Notfallsituationen darstellen, müssen angeborene Stoffwechselstör...
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Article
Erratum to: Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias
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Article
Erratum to: Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters
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Article
Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias
Dysfunction of proximal tubules resulting in tubulointerstitial nephritis and chronic renal failure is a frequent long-term complication of methylmalonic acidurias. However, the underlying pathomechanisms have...
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Article
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters
Objectives Isolated methylmalonic acidurias (MMAurias) are caused by deficiency of methylmalonyl-CoA mutase or by defects in the synthesis of its cofactor 5′-deoxyadenosylcobalamin. The aim of this study was to ...
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Article
Newborn screening for methylmalonic acidurias—Optimization by statistical parameter combination
With the introduction of tandem mass spectrometry, newborn screening for disorders of propionate metabolism became widely available. However, there is controversy whether population screening for these disorde...
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Article
Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres
The long-term outcome of patients with methylmalonic aciduria (MMA) is still uncertain due to a high frequency of complications such as chronic renal failure and metabolic stroke. The understanding of this dis...
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Article
Looking beyond the basal ganglia: The spectrum of MRI changes in methylmalonic acidaemia
We report imaging abnormalities from 5 brain MR examinations in 4 children with methylmalonic acidaemia between the ages of 20 days and 31 months. In addition to bilateral basal ganglia lesions (pallidum) obse...
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Article
Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism
Inherited disorders of amino and organic acid metabolism have a high cumulative frequency, and despite heterogeneous aetiology and varying clinical presentation, the manifestation of neurological disease is co...
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Article
Neurodegeneration and chronic renal failure in methylmalonic aciduria—A pathophysiological approach
In the last decades the survival of patients with methylmalonic aciduria has been improved. However, the overall outcome of affected patients remains disappointing. The disease course is often complicated by a...
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Article
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)
Glutaryl-CoA dehydrogenase (GCDH) deficiency is an autosomal recessive disease with an estimated overall prevalence of 1 in 100 000 newborns. Biochemically, the disease is characterized by accumulation of glut...
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Article
The aetiology of neurological complications of organic acidaemias—A role for the blood–brain barrier
The blood–brain barrier (BBB) metabolically isolates the central nervous system (CNS) from the circulation and protects it against fluctuations of hydrophilic nutrients in plasma and from intoxication. Recent ...
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Article
Neonatal screening for glutaric aciduria type I: Strategies to proceed
Acute encephalopathic crisis in glutaric aciduria type I results in an unfavourable disease course and poor outcome, dominated by dystonia, feeding problems, seizures and reduced life expectancy. A conditio sine ...
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Article
Acrodermatitis acidaemia secondary to ‘overtreatment’ and protein deficiency
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Article
Methylmalonic acid — an endogenous toxin?
Methylmalonic acid was previously considered as major neurotoxin in methylmalonic acidurias. In contrast, recent studies support the notion that other metabolites deriving from propionyl-coenzyme A, inducing s...
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Article
Animal models for glutaryl-CoA dehydrogenase deficiency
Summary: In vitro studies suggest that excitotoxic cell damage is an underlying mechanism for the acute striatal damage in glutaryl-CoA dehydrogenase (GCDH) deficiency. It is believed to result from an imbalance...
