Library

X
feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Electronic Resource
    Electronic Resource
    Propionic acidaemia: clinical, biochemical and therapeutic aspects (1994)
    Springer
    European journal of pediatrics 153 (1994), S. S68 
    Details
    ISSN: 1432-1076
    Keywords: Propionic acidaemia ; Propionyl-CoA carboxylase deficiency ; Skin lesions ; Inborn errors of metabolism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Comprehensive data on 30 patients with propionic acidaemia, diagnosed by selective screening for inborn errors of metabolism, are presented. The most valuable diagnostic metabolites found were methylcitric-, 3-hydroxypropionic-, and 2-methyl-3-oxovaleric acids. Hyperlysinaemia and hyperlysinuria are also characteristic findings in this disease. The metabolic pattern found in propionic acidaemia is discussed extensively as are enzymatic findings. Residual activity of propionyl-CoA carboxylase is neither a predictive marker for severity nor for outcome of the disease. Propionate fixation assay were less reliable for confirmation of propionic acidaemia and of no prognostic value. Clinical presentation of the disease is discussed in detail. Besides the well-known unspecific findings (poor appetite, feeding difficulties, vomiting, dehydration, weight loss, muscular hypotonia, dyspnoea, somnolence, apathy, convulsion, coma, severe metabolic acidosis, hyperammonaemia) various skin abnormalities have been detected in about 50% of all patients. In 27% “dermatitis acidemica” was found.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02138781
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria (1982)
    Springer
    European journal of pediatrics 138 (1982), S. 32-37 
    Details
    ISSN: 1432-1076
    Keywords: Neurometabolic disease ; Organic aciduria ; 2-oxoglutarate dehydrogenase deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A boy and a girl born to a consanguineous Tunisian couple are suffering from a slowly progressive nervous disorder. Initially they both had normal psychomotor development with acquisition of gait and speech. First symptoms in the boy were athetoid movements during the second year of life. He later lost all motor and language skills and developed muscular rigidity and intention tremor. At the age of five years, he was completely bedridden while he appeared mentally much less affected. His younger sister followed a similar course. The major specific abnormality detected was a strikingly elevated excretion of 2-oxoglutaric acid, which was identified by gas liquid chromatography, mass spectrometry, and enzymatic analysis. 2-oxoglutarate dehydrogenase activity in homogenates of cultured skin fibroblasts was reduced to about 25% of control values in both children. Although the pathogenetic mechanisms leading to brain damage remain obscure, the finding strongly suggest an autosomal recessive neurometabolic disease with predominant involvement of the extrapyramidal system.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442325
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    The effect of intravenous l-carnitine on propionic acid excretion in acute propionic acidaemia (1984)
    Springer
    European journal of pediatrics 143 (1984), S. 61-63 
    Details
    ISSN: 1432-1076
    Keywords: Propionic acidaemia ; Carnitine treatment ; Propionyl carnitine ; 2-methylcitrate
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 6-week-old female infant presented in a severe metabolic crisis from propionic acidaemia. The condition was aggravated by pneumonia and heart insufficiency. In addition to the general supportive measures and caloric intake exclusively from glucose, intravenous l-carnitine treatment (2 g l-carnitine/24 h) was started to enhance propionic acid excretion as a carnitine conjugate. Despite the therapeutic efforts the patient died about 48 h after admission in sudden respiratory arrest and bradycardia. Serum propionic acid concentration was increased to 0.3 μmol/ml. Propionylcarnitine excretion was measured and about 55% of the overall excretion during the 48 h treatment period was attributed to an effect of carnitine administration. 2-methylcitrate and 2-methyl-3-oxovaleric acid excretion decreased during the same period. Obviously carnitine was not able to prevent metabolic deterioration but may provide some additional “buffer capacity” during long-term dietary treatment.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442751
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...