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Article
Open AccessImpact of glycogen storage disease type I on adult daily life: a survey
Glycogen storage disease type I (GSD I) is a rare autosomal recessive disorder of carbohydate metabolism characterized by recurrent hypoglycaemia and hepatomegaly. Management of GSD I is demanding and comprise...
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Article
Strukturierte Aufklärung und Beratung bei monogen vererbten Stoffwechselkrankheiten
Monogene Stoffwechselkrankheiten werden rezessiv, x-chromosomal oder dominant vererbt und stellen für die Mehrzahl konkret oder potenziell betroffener Personen (Patienten, Eltern, Verwandte), aber auch für med...
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Article
Open AccessClinical and neurocognitive outcome in symptomatic isovaleric acidemia
Despite its first description over 40 years ago, knowledge of the clinical course of isovaleric acidemia (IVA), a disorder predisposing to severe acidotic episodes during catabolic stress, is still anecdotal. ...
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Chapter
Branched-chain Organic Acidurias/Acidaemias
Branched-chain organic acidurias or organic acidaemias are a group of disorders that result from an abnormality of specific enzymes involving the catabolism of branched-chain amino acids (BCAAs). Collectively,...
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Article
Open AccessEfficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *
National newborn screening programmes based on tandem-mass spectrometry (MS/MS) and other newborn screening (NBS) technologies show a substantial variation in number and types of disorders included in the scre...
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Article
Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia
Long-term outcome in classic galactosemia is disappointing with impaired IQ, reduced bone mineral density, and fertility problems. Moreover, speech impairment is common with conflicting reports regarding frequ...
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Article
Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia – and review of the literature
Pregnancy, delivery, and postpartal metabolic control was monitored biochemically in five patients (22–38 years of age) with clinically, enzymatically, and genotypically established classical galactosaemia and...
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Article
Open AccessEvaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU)
Normal intellectual and personal development can be expected in early-diagnosed and treated PKU patients. Aim of the study was to analyse quality of life and social status, which are important parameters for a...
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Article
Cystic renal dysplasia as a leading sign of inherited metabolic disease
Glutaric acidemia type II and carnitine palmitoyltransferase type II deficiency are rare, but potentially treatable, inherited metabolic diseases. Hallmarks of the early onset form of both conditions are renal...
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Chapter
The Role of Communication in the Treatment of Inborn Metabolic Diseases
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Article
Impact of Longitudinal Plasma Leucine Levels on the Intellectual Outcome in Patients with Classic MSUD
Maple syrup urine disease (MSUD) is an inherited deficiency of branched chain α-ketoacid dehydrogenase (BCKDH) activity impairing the degradation of the branched chain amino acids valine, leucine, and isoleuci...
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Chapter
Branched-Chain Organic Acidurias/Acidemias
Branched-chain organic acidurias or organic acidemias are a group of disorders that result from an abnormality of specific enzymes involving the catabolism of branched-chain amino acids (BCAAs). Collectively, ...
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Article
Erwachsene mit angeborenen Stoffwechselkrankheiten
Seit wenigen Jahrzehnten ist eine erfolgreiche Behandlung vieler angeborener Stoffwechselkrankheiten möglich. Diese Therapiefortschritte und die Entwicklung eines Neugeborenen-Screenings seit 35 Jahren stellen...
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Article
Zur Behandlungssituation erwachsener Patienten mit angeborenen Stoffwechselkrankheiten
Fortschritte in der Diagnostik und Therapie angeborener Stoffwechselkrankheiten haben zur Verbesserung von Prognose und Outcome der Patienten geführt. Viele dieser Patienten haben inzwischen das Erwachsenenalt...
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Article
Erwachsene mit angeborenen Stoffwechselkrankheiten
Seit wenigen Jahrzehnten ist eine erfolgreiche Behandlung vieler angeborener Stoffwechselkrankheiten möglich. Diese Therapiefortschritte und die Entwicklung eines Neugeborenen-Screenings seit 35 Jahren stellen...
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Article
Tissue Carnitine Homeostasis in Very-Long-Chain Acyl-CoA Dehydrogenase–Deficient Mice
Deficiency of very-long-chain acyl-CoA dehydrogenase (VLCAD) is the most common long-chain fatty acid oxidation defect and presents with heterogeneous clinical manifestations. Accumulation of long-chain acylca...
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Article
Psychotic symptoms in severe MTHFR deficiency and their successful treatment with betaine
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Article
Disturbance of Cultured Rat Neuronal Network Activity Depends on Concentration and Ratio of Leucine and α-Ketoisocaproate: Implication for Acute Encephalopathy of Maple Syrup Urine Disease
Increased concentrations of leucine and its respective ketoacid α-ketoisocaproate (KIC) in plasma and cerebrospinal fluid are related to acute and reversible encephalopathy in patients with maple syrup urine d...
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Article
Consensus guidelines for management of glycogen storage disease type 1b—European study on glycogen storage disease type 1
Life expectancy in glycogen storage disease type 1 (GSD-1) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and therefore experience wi...
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Article
Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European study on glycogen storage disease type 1
Patients with glycogen storage disease type 1b (GSD-1b) have neutropenia and neutrophil dysfunction that predispose to frequent infections and inflammatory bowel disease (IBD), for which granulocyte colonystim...
