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Article
Comparison of the Catabolism of Branched-Chain L-Amino Acids in Cultured Human Skin Fibroblasts
ABSTRACT. Using 1-14C-labeled substrates, the metabolism of naturally occurring branched-chain L-amino acids was studied in incubations with cultured human skin fibroblasts derived from normal subjects and from a...
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Article
Transamination and Oxidative Decarboxylation Rates of Branched-Chain 2-Oxo Acids in Cultured Human Skin Fibroblasts
ABSTRACT. Transamination and oxidative decarboxylation of branched-chain L-amino acid derived 2-oxo acids in cultured human skin fibroblasts from normal subjects and from a patient with maple syrup urine disea...
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Article
15 DIFFERENTIALLY IMPAIRED OXIDATION OF BRANCHED-CHAIN AMINO ACIDS IN MAPLE SYRUP URINE DISEASE (MSUD)
Whether the impaired branched-chain 2-oxo acid dehydrogenase (BCOA-DH) activity in MSUD is concurrently or rather differentially reduced against the different 2-oxo acid substrates was assessed by measuring the 1...
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Article
Interrelation between the Metabolism of L-Isoleucine and L-Allo-Isoleucine in Patients with Maple Syrup Urine Disease
ABSTRACT: The nonprotein amino acid L-allo-isoleucine is formed endogenously in maple syrup urine disease patients from (R)-3-methyl-2-oxo-pentanoic acid. During strict metabolic balance, the plasma L-allo-iso...
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Article
DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population
Thirty-nine Turkish phenylketonuria (PKU) families were investigated for their DNA haplotypes at the phenylalanine hydroxylase (PAH) locus. There was a threefold higher incidence of consanguinity in the popula...
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Article
Accumulation of Odd-Numbered Long-Chain Fatty Acids in Fetuses and Neonates with Inherited Disorders of Propionate Metabolism
ABSTRACT: Fetuses affected with propionic acidemia incorporate great amounts of odd-numbered long-chain fatty acids (OLCFA) into their body lipids. This is due to abundant supply with precursor amino acids of ...
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Article
Oral L-Alloisoleucine Loading Studies in Healthy Subjects and in Patients with Maple Syrup Urine Disease
ABSTRACT: Total body and renal elimination of L-allo-isoleucine was assessed after oral loads (0.57 mmol/kg body wt) in four healthy subjects and in five patients with maple syrup urine disease (MSUD) of diffe...
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Article
ODD-NUMBERED LONG-CHAIN FATTY ACIDS IN ERYTHROCYTE MEMBRANE LIPIDS AND PROPIONIC ACID IN PLASMA FOR METABOLIC CONTROL OF PATIENTS WITH PROPIONIC ACIDAEMIA
In patients with propionic acidaemia (PA) and methylmalonic acidaemia (MMA) the increased concentration of propionyl-CoA in cells leads to a relative abundance of odd-numbered long-chain fatty acids (OLCFA) in...
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Article
Importance of mitochondrial transmembrane processes in human mitochondriopathies
In a substantial group of subjects suspected to have a mitochondriopathy no defect in the mitochondrial energy metabolism (pyruvate dehydrogenase complex or respiratory chain complexes) can be demonstrated. At...
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Article
Deficiency of the Voltage-Dependent Anion Channel: A Novel Cause of Mitochondriopathy
A patient with a deficient voltage-dependent anion channel (VDAC) is reported, presenting clinically with psychomotor retardation and minor dysmorphic features. Biochemical studies on muscle mitochondria showe...
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Article
Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex
Disturbances in substrate oxidations in muscle mitochondria from patients with a suspicion of a mitochondrial myopathy may arise from a deficiency of one or more of the complexes of the respiratory chain or of...
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Article
Assessment of Whole Body L-Leucine Oxidation by Noninvasive L-[1-13C]Leucine Breath Tests: A Reappraisal in Patients with Maple Syrup Urine Disease, Obligate Heterozygotes, and Healthy Subjects
Suitability of a recently proposed noninvasive L-[13C]leucine breath test for assessment of whole body leucine oxidation in maple syrup urine disease (MSUD) was examined. Oral L-[1-13C]leucine loads (38 μmol/kg b...
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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...
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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
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
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
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
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...
