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Article
A Patient with Nonketotic Hyperglycinemia: Biochemical Findings and Therapeutic Approaches
Extract: High voltage paper electrophoresis of urine and quantitative amino acid analysis of serum revealed a greatly increased excretion of glycine as well as hyperglycinemia in a patient on the 7th day of li...
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Article
144: Gyrate atrofy of the choroid and retina and ornithine-ketoacid aminotransferase deficiency
In a 10 years old girl with gyrate atrofy of the choroid and retina plasma ornithine concentration was consistently elevated ranging from 1000-1250 μmol/1. The ornithine concentration of the spina fluid was si...
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Article
Organic aciduria in hypoxic premature newborns simulating an inborn error of metabolism
A very unusual pattern of organic acid excretion was established in the urine of two premature newborns with severe respiratory distress and cerebral haemorrhages. By combined gas chromatography/mass spectrome...
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Article
Recurrent exertional rhabdomyolysis and stunted growth
A boy with recurrent exertional rhabdomyolysis and stunted growth is described. Fetal movements were few and the boy was small for gestational age. He always experienced easy fatigability, and he, noted bouts ...
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Article
Biochemical studies in the cerebro-hepato-renal syndrome of Zellweger: A disturbance in the metabolism of pipecolic acid
The metabolism of pipecolic acid has been studied in three patients suffering from the cerebro-hepato-renal syndrome of Zellweger. A marked pipecolic aciduria was observed in these patients and serum levels of...
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Article
Muscle phosphorylase deficiency in childhood
Myophosphorylase deficiency (McArdle's syndrome) is an uncommon conditon characterized by exercise intolerance, muscle cramps and myoglobinuria. The present report describes the clinical, histochemical, electr...
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Article
Successful carnitine treatment in a non-carnitine-deficient lipid storage myopathy
An 18-month-old boy presented with general hypotonia, decreased muscle strength, retarded motor development and stunted growth. The excretion of dicarboxylic acids was enhanced. EMG was normal. A muscle biopsy...
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Chapter
Carbohydrate Metabolism in Intrauterine Growth Retardation
Intrauterine growth retardation (IUGR) can result f m a variety of maternal, placental or fetal factors. Placental insufficiency (24, 25) and chronic vascular disease (36) are of major importance and result in...
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Article
α-aminoadipic aciduria and persistence of fetal haemoglobin in an oligophrenic child
The case of a mentally retarded girl with a number of dysmorphic features, Raynaud's phenomenon, hypotonia and petit mal seizures is presented. Laboratory investigations showed α-aminoadipic aciduria and a hig...
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Article
Estimation of energy metabolism in human skeletal muscle homogenate as a diagnostic aid
A method is presented for thein vitro testing of the energy metabolism of human skeletal muscle. The levels of creatine phosphate, ATP, ADP and AMP, which are defined by the activity of many enzyme systems, are m...
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Article
Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine
Two newborn female siblings fell ill with apathy, failure of suckling and a generalized progressive muscular hypotonia. Death occured at the age of 7 weeks, obviously caused by impairment of respiratory muscul...
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Article
Dysmyelination and disturbed metabolism of pyruvate: a case report
A patient with dysmyelination is described. Lactate levels were elevated in serum, urine, and cerebrospinal fluid. A decreased pyruvate oxidation rate due to a pyruvate dehydrogenase complex deficiency was dem...
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Article
Biochemical Studies in the Liver and Muscle of Patients with Zellweger Syndrome
Summary: Biochemical studies have been performed in muscle, liver, leukocytes, and fibroblasts from patients suffering from the Zellweger syndrome. Oxidation rates of [1-14C]pyruvate, [U-14C]malate, and [1-14C]2-...
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Article
A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency
A boy presented suffering from generalised weakness, exercise intolerance and lactic acidosis. The weakness became evident at 2 years. A cerebral CT-scan showed cerebellar atrophy and central and peripheral at...
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Article
Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency
A girl was presented suffering from generalised weakness and cardiorespiratory insufficiency. She succumbed at the age of 5 months. Lactate levels were elevated in serum, cerebrospinal fluid and urine. Histopa...
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Article
Mitochondrial myopathies
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Article
A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q
A patient is presented who had therapy-resistant epileptic seizures from the 7th day of life. Examination at the age of 17 months revealed a mentally retarded boy with epileptic seizures, generalised myoclonic...
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Article
Infantile Refsum's disease: Biochemical findings suggesting multiple peroxisomal dysfunction
Infantile Refsum's disease was diagnosed in three male patients, presenting with facial dysmorphia, retinitis pigmentosa, neurosensory hearing loss, hepatomegaly, osteopenia and delayed growth and psychomotor ...
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Article
Maternal phenylketonuria: comparison of two treated full term pregnancies
This case report documents the fetal outcome of two full term pregnancies in a patient with phenylketonuria (PKU). She was treated with a low phenylalanine diet preceeding and during both pregnancies. During h...
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Article
Combined deficiencies of complexes III and IV of the respiratory chain, involving both nuclear and mitochondrial gene products, in skeletal muscle of a patient with lactic acidosis
