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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
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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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
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
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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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
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
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...
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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
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
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
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
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
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
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
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
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...
