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  • 1
    Electronic Resource
    Electronic Resource
    Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation (1992)
    Springer
    European journal of pediatrics 151 (1992), S. 127-131 
    Details
    ISSN: 1432-1076
    Keywords: Glycogen storage disease type II ; Pompe disease ; cblC mutation ; Vitamin B12 ; Cobalamin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Metabolic studies are described in a patient who presented at 3 weeks of age with severe anaemia, hyperbilirubinaemia and hypotonicity. Clinically, glycogen storage disease type II (Pompe disease) was suspected because of a massively enlarged heart and hepatosplenomegaly. This was confirmed biochemically by the demonstration of glycogen accumulation in skeletal muscle and undetectable acid α-1,4-glucosidase activity in fibroblasts. Further biochemical studies in this patient surprisingly revealed homocystinuria and methylmalonic aciduria, suggesting a defect in the uptake, transport or intracellular metabolism of vitamin B12. Studies in cultured fibroblasts from the patient revealed a low uptake of [57Co]cyanocobalamin and an impaired intracellular conversion to both 5′-deoxyadenosylcobalamin and methylcobalamin. Moreover, the incorporation of labelled propionate into proteins as well as the formation of labelled methionine from labelled 5-methyltetrahydrofolate was deficient in fibroblasts from the patient. Complementation studies revealed the presence of the cblC mutation in this patient. No treatment was initiated and the patient died at the age of 31 days. We conclude that the patient was affected by both glycogen storage disease type II and cblC disease. The remarkable combination of these two rare inborn errors can be the result of the consanguinity of the parents.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01958957
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  • 2
    Electronic Resource
    Electronic Resource
    Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts (1982)
    Springer
    European journal of pediatrics 139 (1982), S. 39-42 
    Details
    ISSN: 1432-1076
    Keywords: Beta-ketothiolase deficiency ; 2-methyl-3-hydroxybutyric aciduria ; 2-Methyl-acetoacetyl-coenzyme-A-thiolase deficiency ; Organic aciduria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A boy of 6.5 years and his 36-year-old father were found to excrete elevated amounts of urinary 2-methyl-3-hydroxybutyric acid and tiglylglycine, as is found in patients with a presumed β-ketothiolase deficiency. Psychomotor development of both patients was normal. The clinical picture was mild, as only during periods with infections does metabolic acidosis develop and clinical abnormalities become noticeable. In vivo loading tests with protein and especially with L(+) isoleucine resulted in massive excretion of 2-methyl-3-hydroxy-butyric acid and tiglyglycine. Enzymatic activity of 3-keto-acyl-CoA thiolase was not detectable in patients fibroblasts using 2-methyl-acetoacetyl-CoA as substrate, whereas with acetoacetyl-CoA as substrate, a lowered activity was found. As ketogenesis in these patients was normal, these findings strongly suggest that the inborn metabolic defect known as β-ketothiolase deficiency is caused by a deficiency of the mitochondrial acetoacyl-CoA specific thiolase isoenzyme involved in thiolysis of (2-methyl) acetoacetyl-CoA, whereas the isoenzyme involved in ketogenesis is not affected.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442077
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  • 3
    Electronic Resource
    Electronic Resource
    An infant with marfanoid phenotype and congenital contractures associated with ocular and cardiovascular anomalies, cerebral white matter hypoplasia and spinal axonopathy (1985)
    Springer
    European journal of pediatrics 143 (1985), S. 228-231 
    Details
    ISSN: 1432-1076
    Keywords: Marfanoid phenotype ; Microspherophakia ; Mitral and tricuspidal valve prolapse ; Spinal axonopathy ; Cerebral white matter hypoplasia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract An infant is presented with a Marfanoid phenotype and congenital contractures. In addition to this she showed severe neurological and ocular abnormalities. Cardiac insufficiency due to mitral and tricuspidal valve prolapse caused her death at the age of 6 months. Postmortem examination showed axonal pathology of the anterior horns and roots of the spinal cord, and white matter hypoplasia of the brain.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442148
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  • 4
    Electronic Resource
    Electronic Resource
    The Langer-Giedion-syndrome (tricho-rhino-phalangeal syndrome, type II) (1979)
    Springer
    European journal of pediatrics 132 (1979), S. 55-59 
    Details
    ISSN: 1432-1076
    Keywords: Langer-Giedion syndrome ; Tricho-rhino-phalangeal syndrome, type II ; Exostoses ; Abnormal epiphyses
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 15-year-old girl with the Langer-Giedion-syndrome (tricho-rhino-phalangeal syndrome, type II) is presented. The features are multiple exostoses, sparse, fine hair and an abnormal face and hands. X-ray examination reveals exostoses and abnormal epiphyses. In this case intelligence is normal; there is severe sensorineural deafness (60–80 dB hearing loss). The genetic aspects of the syndrome are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00443205
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  • 5
    Electronic Resource
    Electronic Resource
    Cerebral gigantism (Sotos syndrome). Compiled data of 22 cases (1985)
    Springer
    European journal of pediatrics 144 (1985), S. 131-140 
    Details
    ISSN: 1432-1076
    Keywords: Cerebral gigantism ; Sotos syndrome ; Growth ; Somatomedin ; Cranial CT scan
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract An in depth study on growth, bone age, cranial CT scans and plasma somatomedin activity (SM-act) was made of 22 children with Sotos syndrome. In addition to the known characteristics of the syndrome, thin and brittle nails were found in three adolescent patients. The mean body stature, expressed as standard deviation score, increased from 2.2–2.8 in the 1st year of life, followed by a fall to 2.0 in the 2nd year. Thereafter the SDS increased slowly to values of 3.0 at 10 years of age. At least two subjects have reached an exceptionally tall final stature. After the age of 2 years, Δ SDS/year remained very stable (−0.1–0.2), concurring with growth velocities in the upper normal range. Bone age was advanced in all patients. Cranial CT scans showed ventricular widening, mid-line cava and Sylvian anomalies in nine, six, and three patients respectively. SM-act dropped from high or normal values in the 1st year, to below normal from 1–5 years, and returned thereafter to the lower half of normal or below the normal range.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00451898
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  • 6
    Electronic Resource
    Electronic Resource
    Acromicric dysplasia and geleophysic dysplasia: Similarities and differences (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 311-314 
    Details
    ISSN: 1432-1076
    Keywords: Dwarfism ; Acromicric dysplasia ; Geleophysic dysplasia ; Moore-Federman syndrome ; Storage disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Abstract We report on a girl with severe growth retardation, characteristic facies, short stubby hands and feet, progressive joint stiffness, mild aortic and mitral valve insufficiency, and normal intelligence. These features are compatible with the diagnosis acromicric dysplasia. The differential diagnosis with Moore-Federman syndrome and geleophysic dysplasia is discussed; major points to consider in differentiating these entities are the facial appearance, the aspect of the proximal femora, and the presence or absence of storage phenomena. The differences in pattern of inheritance are important in adequate patient care, especially in genetic counselling. Conclusion Acromicric dysplasia, geleophysic dysplasia, and Moore-Federmann syndrome may be allelic forms of the same disorder or different disturbances of the same metabolic pathway
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02002719
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  • 7
    Electronic Resource
    Electronic Resource
    Peroxisomal abnormalities in rhizomelic chondrodysplasia punctata (1986)
    Springer
    Journal of inherited metabolic disease 9 (1986), S. 329-331 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01799743
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