29 Result(s)
within
Udo Wendel
Pediatrics
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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
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
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
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...
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Article
Type I glycogen storage disease: favourable outcome on a strict management regimen avoiding increased lactate production during childhood and adolescence
Our objective was to evaluate the long-term effects of dietary therapy of tyep I glycogen storage disease which avoids increased lactate production during childhood and adolescence. In order to suppress hepati...
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Article
Acute rheumatic fever in a patient with glycogen storage disease type Ib: causal or coincidental simultaneous occurrence?
We report a Caucasian female who was diagnosed with glycogen storage disease type Ib (GSD-Ib) at the age of 4 months and whose clinical course was complicated by neutropenia and very frequent episodes of infe...
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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 colony-st...
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Article
Type I glycogen storage disease: favourable outcome on a strict management regimen avoiding increased lactate production during childhood and adolescence
Our objective was to evaluate the long-term effects of dietary therapy of type I glycogen storage disease which avoids increased lactate production during childhood and adolescence. In order to suppress hepat...
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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 w...
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Article
Whole-Body l-Leucine Oxidation in Patients with Variant Form of Maple Syrup Urine Disease
Whole-body l-leucine oxidation was assessed in patients with maple syrup urine disease of different severity using oral l-[1-13C]leucine bolus tests (38 μmol/kg body weight). Residual whole-body l-leucine oxidati...
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Article
Normal Clinical Outcome in Untreated Subjects with Mild Hyperphenylalaninemia
There is international consensus that patients with phenylalanine (Phe) levels <360 μM on a free diet do not need Phe-lowering dietary treatment whereas patients with levels >600 μM do. Clinical outcome of pat...
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Article
Formation of L-Alloisoleucine In Vivo : An L-[13C]Isoleucine Study in Man
L-Alloisoleucine (2 S, 3 R), a diastereomer of L-isoleucine (2 S, 3 S), is a normal constituent of human plasma. Considerable amounts accumulate in maple syrup urine disease, in which the branched-chain 2-oxo aci...
