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SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY
Author(s) -
GRöBE H.,
BASSEWITZ D. B. v.,
DOMINICK H.CHR.,
PFEIFFER R. A.
Publication year - 1975
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1975.tb03916.x
Subject(s) - pyruvate carboxylase , medicine , gluconeogenesis , endocrinology , thiamine , thiamine pyrophosphate , glycogen , cerebrospinal fluid , pyruvic acid , alanine , biochemistry , metabolism , biology , enzyme , cofactor , amino acid
Gröbe, H., v. Bassewitz, D. B., Dominick, H.‐Chr. and Pfeiffer, R. A. (Departments of Paediatrics and of Medical Cell Biology, University of Münster, Münster, and Institute of Human Genetics, Medical School, Lübeck, BRD). Subacute necrotizing en‐cephalomyelopathy. Clinical, ultrastructural, biochemical and therapeutic studies in an infant. Acta Paediatr Scand, 64: 755, 1975.–Subacute necrotizing encephalomyelopathy (SNE) has been observed in an infant with regressing psychomotor development. The concentrations of alanine, pyruvate and lactate were increased in the serum and blood as well as in the cerebrospinal fluid. Pyruvate carboxylase activity was reduced in the liver tissue. An inhibitor of thiamine‐pyrophosphate‐ATP‐phosphotransferase was present in the urine. Thiamine treatment was followed by a decrease of serum alanine and blood pyruvate and lactate, but there was no clinical improvement during a period of 17 months. Ultrastructural investigations revealed high glycogen levels in liver tissue and skeletal muscle. These findings contrast with decreased gluconeogenesis, which is suggested by the diminished pyruvate carboxylase activity. Therefore it is concluded that reduced hepatic pyruvate carboxylase activity is not the primary cause of SNE.