Über den Einfluß diätetischer Prophylaxe auf die Myelogenese bei der Leucinose (maple syrup urine disease)

Linneweh, F.; Solcher, H.

doi:10.1007/bf01712059

Cited by 13 publications

(4 citation statements)

References 13 publications

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“…The defect in myelin development is apparent soon after birth, as has been demonstrated by Linneweh and Solcher (1965) and Menkes and Solcher (1967 a and b), in recent studies which compared the neuropathological alterations and changes in chemical composition of brains of two children, one of whom was not treated and died at four months, and the other of whom was treated but died, of apparently unrelated cause, at five months. Myelin development in the untreated patient's brain was equivalent to that normally present in a newborn infant's cerebral hemispheres, whereas the treated child's brain had a normal degree of postnatal myelinogenesis for chronological age.…”

Section: Pathologymentioning

confidence: 68%

“…A review of thirty fullydescribed cases of MSUD from the literature is detailed in Table I1 (Menkes et a/. 1954, Lonsdale et al 1963, Morris et al 1961, Dancis et al 1967, Woody et al 1963, Smith and Strang 1958, Linneweh and Solcher 1965, MacKenzie and Woolf 1959, Goedde et al 1966, Snyderman et al 1964, Snyderman 1967, Lane 1961, Sander et al 1968).…”

Section: Discussionmentioning

confidence: 99%

“…The dietary manipulation necessary for these children has been difficult and, despite apparent biochemical control, death from pneumonia and erythroderma with skin ulceration has been the fate of some of the patients with MSUD reported by Linneweh and Solcher (1965) and others (Goedde et al 1966, Silberman et al 1961, Menkes 19594, Miiller and Schreier 1962.…”

Section: Therapymentioning

confidence: 99%

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Maple Syrup Urine Disease

Schwartz

Kolendrianos

1969

Develop Med Child Neuro

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SUMMARY A case of maple syrup urine disease is presented, with a discussion of the characteristic clinical syndrome of neonatal feeding difficulty, lethargy, respiratory irregularity, seizures and opisthotonos The biochemical abnormality in the oxidative decarboxylation of the keto‐acids of valine, leucine and isoleucine is described, and an approach to dietary therapy, by carefully controlling the amino‐acid composition of the diet, is outlined. The pathological findings are widespread, but with especially marked alterations in myelin formation in the cerebral hemispheres. This unusual disorder, which is one of the classic inborn errors of metabolism, is no longer merely of academic importance. With the development of diet therapy and means of controlling the metabolic derangement, thereby preventing mental retardation and widespread neurological deficits, the diagnosis of MSUD and early initiation of therapy becomes an urgent and intensely practical matter, especially in the immediate neonatal period. RÉSUMÉ Maladie des urinesá odeur de sirop d'érable Un cas de leucinose est présenté, associe a une discussion du syndrome clinique caracter‐istique: difficultes d'alimentation durant la période néonatale, somnolence extreme, irregu‐larite respiratoire, crises convulsive et opisthotonos. Les anomalies biochimiques dans la decarboxylation oxidative des acides cetoniques de la valine, de la leucine, et de l'isoleucine sont decrits; on insiste sur la description de la therapeutique alimentaire, par le controle soigneux de la composition en amino‐acides du regime. Les decouvertes anatomo‐patho‐logiques sont nombreuses mais les alterations les plus marquees se situent au niveau de la formation de la myeline dans les hemispheres cerebraux. Ce desordre inhabituel, qui est l'une des erreurs innees classiques de metabolisme n'est plus aujourd'hui d'importance purement academique. Avec le développement du traitement par le regime et les moyens d'apprecier les perturbations metaboliques, par la de preven ir le retard mental et les deficits neurologiques etendus, le diagnostic de la leucinose et l'installation d'un traitement precoce devient un probleme urgent et eminemment pratique, specialement durant la période immediatement post‐natale. ZUSAMMENFASSUNG Ahornzuckerkrankheit Es wird ein Fall einer Ahornzuckerkrankheit vorgestellt und eine Diskussion des charakteristischen klinischen Syndroms: Schwierigkeiten der neonatalen Emahrung, Lethargie, Atemunregelmafiigkeiten, plötzliche Anfälle und Opisthotonus angeschlossen. Die biochemische Veranderung in der oxydativen Decarboxylieiung der Aminosauren Valin, Leucin und Isoleucin sind beschrieben woiden, und die Einstellung auf diatetische Therapie unter sorgfaltiger Kontrolle der Aminosaurenzusammensetzung dieser Diat wurde dargelegt. Die pathologischen Befunde waren umfangreich, jedoch mit besonders her‐vortretenden Veranderungen im Mark der Hirnhemispharen. Diese seltene Krankheit, die zu den klassischen Stoffwechselkrankheiten gehort, ist nicht langer von nur akademischem In...

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Section: Pathologymentioning

confidence: 68%

Section: Discussionmentioning

confidence: 99%

Section: Therapymentioning

confidence: 99%

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Maple Syrup Urine Disease

Schwartz

Kolendrianos

1969

Develop Med Child Neuro

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“…The deposition of myelin is less ad¬ vanced than would be expected for a normal brain of comparable age, and status spongiosus, often accompanied by focal areas of astrocytosis, is evident. [6][7][8] These pathologic findings are less strik¬ ing in younger infants1; and in the instance of a 12-day-old child, the analyses of lipid class and fatty acid composition in white matter were entirely normal for the infant's age.9,io…”

mentioning

confidence: 99%

Maple Syrup Disease

Menkes¹,

Solcher²

1967

Arch Neurol

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MAPLE -APLE syrup disease is a rapidly progressive familial cerebral degenerative condition marked by the excretion of a urine possessing a sweet, maple syrup-like odor.1 The enzymatic basis for this disease is a failure in the oxidative decarboxylation of three branched-chain keto acids, the derivatives of leucine, valine, and isoleucine. As a consequence of the defect, these compounds and their amino acid analogues are excreted in large amounts, and plasma levels of branched-chain amino acids are many times higher than normal.2 Hypertonia, disturbances in respiration, and seizures appear shortly after birth and prove to be fatal within a few weeks or months in a majority of children.In analogy to the therapy for phenylketonuria, Holt et al first suggested regulating the abnormal blood levels of branchedchain amino acids by means of a completely synthetic diet in which the intake of leucine, isoleucine, valine, and methionine could be carefully controlled.3 More recently, regulation of methionine intake has been abandoned, and a more simplified diet based on small amounts of skimmed milk supplemented by arachis oil, sucrose, and L-amino acids in proportions similar to those found in a full milk diet has been devised by Westall.4 On such a regimen the rapid neurologic deterioration of infants wth maple syrup disease can be arrested, and near-normal intellectual development becomes possible.5In the untreated case surviving beyond the first two months of life, the principal ana¬ tomic alterations occur in cerebral white matter. The deposition of myelin is less ad¬ vanced than would be expected for a normal brain of comparable age, and status spongiosus, often accompanied by focal areas of astrocytosis, is evident.6-8These pathologic findings are less strik¬ ing in younger infants1; and in the instance of a 12-day-old child, the analyses of lipid class and fatty acid composition in white matter were entirely normal for the infant's age.9,ioAs it appeared likely that the early de¬ mise of this patient precluded the develop¬ ment of any abnormalities in lipid compo¬ sition, these neurochemical studies were repeated on two infants with maple syrup disease, dying between the ages of 4 and 5 months. One of these children was untreat¬ ed, while the other had been placed on a diet restricted in leucine, valine, and isoleu¬ cine during the second week of life, with plasma levels of these amino acids main¬ tained as close to normal as possible. Report of CasesDetailed case histories and pathological studies were presented in a previous publi¬ cation by one of us.8 Case 1.-This boy, the product of a normal pregnancy and delivery, developed swallowing difficulties on the sixth day of life, and seizures at eight days. Over the next few weeks neuro¬ logic symptoms became progressively more se¬ vere. The diagnosis of maple syrup disease was made at 4 months of age shortly before his death of bronchopneumonia and hyperpyrexia.On autopsy the brain was markedly edematous.

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Brain Damage in the Aminoacidurias

Wiltse¹,

Menkes

1972

Handbook of Neurochemistry

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Über den Einfluß diätetischer Prophylaxe auf die Myelogenese bei der Leucinose (maple syrup urine disease)

Cited by 13 publications

References 13 publications

Maple Syrup Urine Disease

Maple Syrup Urine Disease

Maple Syrup Disease

Brain Damage in the Aminoacidurias

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