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  • 1
    Electronic Resource
    Electronic Resource
    Die Dünnschichtchromatographie der Aminosäuren im Urin (1970)
    Springer
    Journal of molecular medicine 48 (1970), S. 682-688 
    Details
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Methods for thin-layer chromatography of urinary amino acids on commercially available procoated plates of micro-crystalline cellulose are presented. The urine is desalted by passing it through columns containing Amberlite CG 120 I. The amino acids are eluted by a solution of 5 per cent ammonia. The eluate is taken to dryness and dissolved in such an amount of water that 1 µl corresponds to 1 µg of creatinine. 1 µl is spotted to plates (10×10 cm) by micro pipets. Every urine is developed two-dimensionally by two solvent pairs. First pair: Ethanol-H2O (83:17), first direction, three times developed up to 8 cm, tert-Butanolmethylethylketone-NH3-diethylamine-H2O (35:35:10:0,4:20), second direction, once developed up to 8 cm. Second pair: n-Butanol-acetone-glacial acetic acid-H2O (35:35:10:20), first direction, phenol-formic acid (15 per cent) (250 g+83 ml), second direction, once developed up to 8 cm. Using these solvent pairs it is possible to separate most of the important urinary amino acids and diagnose or suspect most of the known metabolic disorders with a disturbed urinary excretion of amino acids. Phosphoethanolamine, S-sulphocysteine and taurine are lost by desalting the urine. Special problems of detecting and locating some amino acids are discussed.
    Notes: Zusammenfassung Es werden Methoden zur Dünnschichtchromatographie der Harnaminosäuren auf mikrokristalliner Cellulose angegeben. Vor der dünnschichtchromatographischen Trennung wird der Urin (Amberlite CG 120 I, H+-Form; Elution mit 5% igem NH3) entsalzt. Nach Einengen des Eluats zur Trockne und Lösung des Rückstandes in einer auf den Kreatiningehalt des Urins bezogenen Menge Wasser wird der Urin auf Cellulose-Fertigplatten der Fa. Merck AG. aufgetragen. Die Plattengröße beträgt 10×10 cm. Durch Verwendung von zwei Fließmittelpaaren ist es möglich, bei den meisten der bekannten Stoffwechselkrankheiten mit vermehrter Aminosäure-Ausscheidung eine Diagnose oder eine Verdachtsdiagnose zu stellen. Ausnahmen sind lediglich die Hypophosphatasie, der Sulfitoxydase-Mangel und die Taurinurie, da die bei diesen Störungen vermehrt ausgeschiedenen Aminosäuren Phosphoäthanolamin, S-Sulfo-l-cystein und Taurin bei der Entsalzung verloren gehen. Auf spezielle Probleme des Nachweises einzelner Aminosäuren wird eingegangen.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01493814
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  • 2
    Electronic Resource
    Electronic Resource
    Nichtketotische Hyperglycinämie (1974)
    Springer
    European journal of pediatrics 116 (1974), S. 95-114 
    Details
    ISSN: 1432-1076
    Keywords: Non-ketotic hyperglycinaemia ; Dietetic treatment ; Histologic changes of brain ; Liver
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es wird über eine Patientin mit einer nichtketotischen Hyperglycinämie berichtet, die 2 Jahre lang mit einer vollsynthetischen Kost aus einem Aminosäurengemisch, Mineralien, Glucose, Fett und Vitaminzusätzen behandelt wurde. Die diätetische Behandlung sowie Zusatz von Natrium-Benzoat zur Nahrung führten nur kurzfristig zu einem Absinken der Plasma-Glycin-Konzentrationen. Nach Anreicherung der Nahrung mit L-Methionin in einer Dosierung von 300 mg/kg KG/die zeigten sich zwar deutlich niedrigere Glycinspiegel, gleichzeitig kam es aber zu einer exzessiven Hypermethioninämie. L-Methionin-Gabe in Dosierungen von 150–200 mg/kg KG hatten keinen Einfluß auf die Höhe des Plasma-Glycin-Spiegels. Die körperliche Entwicklung des Kindes unter Diätbehandlung war altersentsprechend. Ein Einfluß auf die geistige Entwicklung wurde nicht bemerkt, es bestand aber bereits zu Beginn der Behandlung das Bild einer Decrebrierung. Pathologisch-histologisch zeigten sich Veränderungen des ZNS in Form von Markscheidenreifungshemmung und einer spongiösen Degeneration der weißen Substanz in Großhirn, Kleinhirn und Rückenmark sowie Einlagerungen von doppeltbrechenden Kristallen. In der grauen Substanz waren keine groben Alterationen nachweisbar. Im Bereich des peripheren Nervensystems fanden sich keine Markscheidenausfälle und keine doppeltbrechenden Kristalle. Die Leber zeigte eine leichte Vacuolisierung der Leberzellen und eine starke Einlagerung von doppeltbrechenden Kristallen in Parenchymzellen und Makrophagen.
    Notes: Abstract A girl with non-ketotic hyperglycinaemia was treated for 2 years with a synthetic diet consisting of a glycine- and serine-free amino-acid mixture, glucose, fat, minerals, and vitamins. The addition of sodium benzoate to this diet resulted in only a temporary decrease of the plasma glycine concentration. Addition of 300 mg methionine/kg/day led to a marked reduction of glycine in the plasma but also to an excessive increase of the methionine plasma concentration. L-methionine at a lower dose did not influence the plasma glycine level. During the dietary treatment an almost normal gain of body weight was observed, though the psychomotor development was not influenced. Post mortem the following changes were noted: 1. reduced myelination of the white matter; 2. spongiform alterations of the white matter of the cerebrum, the cerebellum, and the spinal cord; 3. inclusions of birefringent crystals in liver and brain. The grey matter of the cerebrum did not show any marked alterations. In peripheral nerves no areas of demyelination or inclusions of crystals were found.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00491509
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  • 3
    Electronic Resource
    Electronic Resource
    Clinical symptoms, biochemical studies and therapeutic approaches in a sibship with a new congenital tubulopathy (1999)
    Springer
    European journal of pediatrics 158 (1999), S. 673-678 
    Details
    ISSN: 1432-1076
    Keywords: Key words Chloride ; Hypokalaemia ; Kinins ; Captopril ; Bartter syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on two siblings suffering from a new congenital tubulopathy. Following normal pregnancies not complicated by polyhydramnios, severe renal losses of potassium, chloride, sodium and magnesium occurred in the first weeks after birth. Calcium metabolism was not affected. The distal tubular chloride reabsorption was considerably decreased in the two siblings (0.25 and 0.28, respectively). Secondary hyperaldosteronism, activation of the kallikrein-kinin system and elevated urinary prostaglandin excretion were observed. The effects of indomethacin, spironolactone and captopril on symptoms, electrolyte wasting, activation of renin-angiotensin-aldosterone and kallikrein-kinin system and prostaglandin synthesis were studied. In spite of persisting elevation of prostaglandin synthesis, captopril decreased electrolyte wasting, polyuria and hyperaldosteronism most effectively. Conclusion We delineate an apparently new disorder characterized by a postnatal onset, an extremely decreased chloride reabsorption with extensive hyperchloriduria and hypermagnesiuria in the presence of normal calcium metabolism. The disorder can be distinguished from other tubulopathies with hypokalaemic alkalosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310051174
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  • 4
    Electronic Resource
    Electronic Resource
    Sekundäre Cystathioninurie (1971)
    Springer
    European journal of pediatrics 110 (1971), S. 46-58 
    Details
    ISSN: 1432-1076
    Keywords: Secondary Cystathioninuria ; Cystathionine ; Identification ; Amino Acids ; Liver Diseases
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es werden Methoden dargestellt, mit denen eine quantitativ geringe Cystathioninausscheidung im Urin festgestellt und bewiesen werden kann. Es wurden 5 Kinder gefunden, die eine mäßige Cystathioninausscheidung aufwiesen (14,5–99,0 μMol/Tag). Die klinischen Befunde dieser Patienten werden dargestellt. Drei von ihnen hatten Leberaffektionen, eines eine nichtketotische Hyperglycinämie, und bei einem Kind handelte es sich um ein Neugeborenes mit multiplen Fehlbildungen. Bei allen Fällen lag eine sekundäre Cystathioninurie vor. Die Ursachen, die zu einer sekundären Cystathioninurie führen, werden besprochen.
    Notes: Abstract A secondary cystathionuria was found in two children with liver disease (cirrhosis of unknown etiology, congenital biliary atresia), in one infant with hypercalcemia due to high doses of vitamin D, in one case of non-ketotic hyperglycinemia, and in one infant with multiple malformations. Methods for the determination of cystathionine, when excreted in only small amounts, are outlined.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00446345
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  • 5
    Electronic Resource
    Electronic Resource
    Neurological outcome in adult patients with early-treated phenylketonuria (1998)
    Springer
    European journal of pediatrics 157 (1998), S. 824-830 
    Details
    ISSN: 1432-1076
    Keywords: Key words Intelligence ; Neurology ; Neuropsychology ; Phenylketonuria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Due to the observation of severe neurological symptoms in single patients as well as brain imaging, neuropsychological and neurophysiological abnormalities, the long-term prognosis of treated phenylketonuria is still under discussion. We investigated the neurological outcome of 57 (24 male, 33 female) patients with phenylketonuria (diet onset 〈3 months) at a mean age of 23.6 (17–33) years in comparison to control subjects. Methods used were a clinical-neurological examination, tests for fine motor abilities, IQ test (WAIS-R), a neuropsychological attention task and MRI (30 patients only). Tremor was increased in the patients (28%) compared to controls (15%). Fine motor abilities were significantly reduced in three areas: hand-wrist steadiness, finger-hand dexterity and hand-wrist speed. Tremor as well as reduced fine motor skills were not associated with treatment-related variables, e.g. diet onset, strictness of biochemical control or amount of MRI white matter change. IQ was lower in patients (mean 97.6) compared to matched control subjects (mean 105.5). IQ at 12 years was correlated with biochemical control from birth up to the age of 12 and remained stable up to adult age, independent of biochemical control after 12 years of age. In contrast to the other outcome parameters, the performance in a neuropsychological attention task was influenced by the concurrent plasma phenylalanine concentration. Specific late-onset neurological impairment was not identified in this sample of early-treated adults with phenylketonuria. Conclusion Careful neurological investigation revealed subtle symptoms of brain damage even after early-initiated treatment in adult patients with phenylketonuria. At present it cannot be excluded that further neurological deterioration could emerge later in life. Thus, patients with phenylketonuria – either on or off diet – should be monitored throughout life.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050945
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  • 6
    Electronic Resource
    Electronic Resource
    Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997 (1999)
    Springer
    European journal of pediatrics 158 (1999), S. 46-54 
    Details
    ISSN: 1432-1076
    Keywords: Key words Phenylketonuria ; Hyperphenylalaninaemia ; Phenylalanine levels ; Treatment recommendations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Treatment of hyperphenylalaninaemias due to phenylalanine hydroxylase deficiency with a low phenylalanine (Phe) diet is highly successful in preventing neurological impairment and mental retardation. There is consensus that, for an optimal outcome, treatment should start as early as possible, and that strict blood Phe level control is of primary importance during the first years of life, but for adolescent and adult patients international treatment recommendations show a great variability. A working party of the German Working Group for Metabolic Diseases has evaluated research results on IQ data, speech development, behavioural problems, educational progress, neuropsychological results, electroencephalography, magnetic resonance imaging, and clinical neurology. Based on the actual knowledge, recommendations were formulated with regard to indication of treatment, differential diagnosis, and Phe level control during different age periods. The development of the early-and-strictly-treated patient in middle and late adulthood still remains to be investigated. Therefore, the recommendations should be regarded as provisional and subject to future research. Efficient treatment of phenylketonuria has to go beyond recommendations for blood Phe level control and must include adequate dietary training, medical as well as psychological counselling of the patient and his family, and a protocol for monitoring outcome. Conclusions Early-and-strictly-treated patients with phenylketonuria show an almost normal development. During the first 10 years treatment should aim at blood Phenyl-alanine levels between 40 and 240 μmol/L. After the age of 10, blood phenylalanine level control can be gradually relaxed. For reasons of possible unknown late sequelae, all patients should be followed up life-long.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310051008
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  • 7
    Electronic Resource
    Electronic Resource
    Atypical vitamin B12-unresponsive methylmalonic aciduria in a sibship with severe progressive encephalomyelopathy: a new genetic disease? (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 398-403 
    Details
    ISSN: 1432-1076
    Keywords: Key words Methylmalonic ; aciduria ; Vitamin B12 ; GABA ; Cerebrospinal fluid ; Encephalomyelopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on two siblings, a girl of 7 years and a boy of 2 years, who presented in infancy with hypotonia, athetoid movements, myopathy and severe developmental delay. The progressive clinical course was characterized by ophthalmoplegia, pyramidal tract signs, loss of visual contact and failure to thrive. The older sister died at the age of 7 years. The younger brother followed an almost identical clinical course. MRI of the brain revealed bilateral hypodensities and atrophy of the putamen. Neurophysiological investigations were consistent with peripheral neuropathy. Investigations for neurometabolic disorders in urine, plasma and CSF of both patients revealed a consistent increase of methylmalonic acid in urine, plasma and CSF as well as borderline low free GABA in CSF. Except for an inconstant elevation of lactate in the boy, metabolic acidosis, hypoglycaemia, episodic ketoacidosis, or hyperammonaemia, the usual concomitants of organoacidopathies, were absent in both children. Homocystinuria was excluded. Methylmalonic aciduria did not respond to antibiotic treatment, vitamin B12 therapy nor dietary protein restriction. Incorporation of [14C]propionate into protein in cultured fibroblasts was pathologically but inconsistently decreased. Both patients’ cell lines showed only minimal response to hydroxocobalamin and normal methylmalonyl-CoA mutase activity. Conclusion Even though the definitive underlying enzymatic defect in this sibship remains obscure our results suggest a new genetic disorder. This report illustrates that hitherto undescribed metabolic disorders remain to be elucidated even in long investigated areas of intermediary metabolism such as methylmalonic aciduria.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955272
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  • 8
    Electronic Resource
    Electronic Resource
    Atypical vitamin B12-unresponsive methylmalonic aciduria in a sibship with severe progressive encephalomyelopathy: A new genetic disease? (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 398-403 
    Details
    ISSN: 1432-1076
    Keywords: Methylmalonic aciduria ; Vitamin B12 ; GABA ; Cerebrospinal fluid ; Encephalomyelopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on two siblings, a girl of 7 years and a boy of 2 years, who presented in infancy with hypotonia, athetoid movements, myopathy and severe developmental delay. The progressive clinical course was characterized by ophthalmoplegia, pyramidal tract signs, loss of visual contanct and failure to thrive. The older sister died at the age of 7 years. The younger brother followed an almost identical clinical course. MRI of the brain revealed bilateral hypodensities and atrophy of the putamen. Neurophysiological investigations were consistent with peripheral neuropathy. Investigations for neurometabolic disorders in urine, plasma and CSF of both patients revealed a consistent increase of methylmalonic acid in urine, plasma and CSF as well as borderline low free GABA in CSF. Except for an inconstant elevation of lactate in the boy, metabolic acidosis, hypoglycaemia, episodic ketoacidosis, or hyperammonaemia, the usual concomitants of organoacidopathies, were absent in both children. Homocystinuria was excluded. Methylmalonic aciduria did not respond to antibiotic treatment, vitamin B12 therapy nor dietary protein restriction. Incorporation of [14C]propionate into protein in cultured fibroblasts was pathologically but inconsistently decreased. Both patients' cell lines showed only minimal response to hydroxocobalamin and normal methylmalonyl-CoA mutase activity. Conclusion Even though the definitive undorlying enzymatic defect in this sibship remains obscure our results suggest a new genetic disorder. This report illustrates that hitherto undescribed metabolic disorders remain to be elucidated even in long investigated areas of intermediary metabolism such as methylmalonic aciduria.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955272
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  • 9
    Electronic Resource
    Electronic Resource
    Amino acid composition of food products used in the treatment of patients with disorders of the amino acid and protein metabolism (1996)
    Springer
    European journal of pediatrics 155 (1996), S. S108 
    Details
    ISSN: 1432-1076
    Keywords: Key words Amino acid ; composition ; Vegetables ; Fruits ; Convenience products ; Dietetic ; treatment
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The amino acid composition of food products frequently used in the diets of amino acid and protein disorders – including tryptophan – was estimated using ion-exchange column chromatography and high performance liquid chromatography. It includes fruits (different varieties of apples, pears, ananas, bananas, peach, strawberries, honey melon, water melon, kiwi, plums, grapes), vegetables (different varieties of potatoes, potato products, cauliflower, broccoli, cabbages, spinach, olives, lettuce, cucumber, peas, mushrooms) and commercially available or home-made food products (meat broth, fine gravy paste, ketchup, liquid seasoning, soja sauce, different varieties of Chinese noodles, sausages for phenylketonuria patients), and different new fiber concentrates.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014223
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  • 10
    Electronic Resource
    Electronic Resource
    Comparison of the protein quality of dietetically treated phenylketonuria patients with the recommendations of the WHO Expert Consultation (1996)
    Springer
    European journal of pediatrics 155 (1996), S. S153 
    Details
    ISSN: 1432-1076
    Keywords: Key words Protein quality ; Dietetic treatment ; Phenylketonuria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The protein quality of the diets of phenylketonuria (PKU) children of different ages (3 months, 10 months, 3 years, 8 years, 12 years, 16 years) with low or high phenylalanine (Phe) tolerance was assessed according to the recommendations of the FAO/WHO consultation group [13]. The amount of each essential amino acid (AA) per gram dietary protein was calculated and compared to the reference. The resultant amino acid score (AAS) indicated a limited to inadequate biological protein quality of the diets in 3-month-old infants (2.2 g protein/kg body weight/day) and 10-month-old infants (2.0 g protein/kg body weight/day) with a “high” Phe tolerance. In all other age groups the AAS was 〉 100%. However remarkable imbalances in the AA pattern were apparent. Beginning with the age of 3 years (1.7 g protein/kg body weight/day) the intake of the AA lysine and isoleucine was three or two times higher than recommended. At the age of 8 years (1.4 g protein/kg body weight/day) the intake of three AA (valine, isoleucine, lysine) was – related to the WHO recommendations – 217%, 229% and 291%. Similar results could be found in the age groups of 12 years (1.1 g protein/kg body weight/day) and 16 years (0.9 g protein/kg body weight/day), respectively. These calculations might help to reconsider the composition of the AA mixtures used in the dietetic treatment of PKU patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014235
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