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Propionic acidaemia: clinical, biochemical and therapeutic aspects

Experience in 30 patients

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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.

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Abbreviations

GC-MS :

gas chromatography-mass spectrometry

MCC :

3-methylcrotonyl-CoA carboxylase

OLCFA :

odd-numbered long-chain fatty acids

PA :

propionic acidaemia

PC :

pyruvate carboxylase

PCC :

propionyl-CoA carboxylase

P-CoA :

propionyl-CoA

SSS-syndrome :

staphylococcal scalded skin syndrome

MSUD :

maple syrup urine disease

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Authors and Affiliations

  1. University Children's Hospital, Mathildenstrasse 1, D-79106, Freiburg, Germany

    W. Lehnert

  2. University Children's Hospital, Anichstrasse 35, A-6060, Innsbruck, Austria

    W. Sperl

  3. University Children's Hospital, Römergasse 8, CH-4005, Basle, Switzerland

    T. Suormala & E. R. Baumgartner

Authors
  1. W. Lehnert
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  2. W. Sperl
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  3. T. Suormala
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  4. E. R. Baumgartner
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Lehnert, W., Sperl, W., Suormala, T. et al. Propionic acidaemia: clinical, biochemical and therapeutic aspects. Eur J Pediatr 153 (Suppl 1), S68–S80 (1994). https://doi.org/10.1007/BF02138781

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