-transparent.png){kind=logo}
A male infant had severe muscular hypotonia from birth. Recurrent vomiting with dehydration and severe metabolic acidosis complicated the course. Elevated lactate (up to 12.3 mmol/l; n less than 2), pyruvate (0.4 mmol/l; n less than 0.05) and alanine levels were found in serum with an abnormal lactate/pyruvate ratio (greater than 30; n less than 15). In urine the concentrations of lactate, pyruvate, alanine and of several intermediates of the citric acid cycle were increased. In muscle, numerous disseminated "ragged red fibres" were found by light microscopy; muscle fibres were found to contain subsarcolemmal aggregates of mitochondria, lipid droplets and glycogen by electromicroscopical methods. Moreover, mitochondria with a typical circular arrangement of cristae were noticed. In liver homogenates normal activities of pyruvate carboxylase and pyruvate dehydrogenase complex were found; in liver mitochondria also succinate-cytochrome-c-oxidoreductase activity was normal. However, in muscle no succinate-cytochrome-c-oxidoreductase activity was detectable. The patient became increasingly lethargic and died because of sepsis at 5 months of age.
A W Behbehani, and
H Goebel, and
G Osse, and
M Gabriel, and
U Langenbeck, and
J Berden, and
R Berger, and
R B Schutgens
May 1988,
European journal of pediatrics,
A W Behbehani, and
H Goebel, and
G Osse, and
M Gabriel, and
U Langenbeck, and
J Berden, and
R Berger, and
R B Schutgens
October 1994,
Acta neurologica Scandinavica,
A W Behbehani, and
H Goebel, and
G Osse, and
M Gabriel, and
U Langenbeck, and
J Berden, and
R Berger, and
R B Schutgens
August 1983,
Proceedings of the National Academy of Sciences of the United States of America,
A W Behbehani, and
H Goebel, and
G Osse, and
M Gabriel, and
U Langenbeck, and
J Berden, and
R Berger, and
R B Schutgens
November 1997,
Journal of inherited metabolic disease,
A W Behbehani, and
H Goebel, and
G Osse, and
M Gabriel, and
U Langenbeck, and
J Berden, and
R Berger, and
R B Schutgens
January 1992,
Pediatric neurology,
A W Behbehani, and
H Goebel, and
G Osse, and
M Gabriel, and
U Langenbeck, and
J Berden, and
R Berger, and
R B Schutgens
January 1987,
Virchows Archiv. A, Pathological anatomy and histopathology,
A W Behbehani, and
H Goebel, and
G Osse, and
M Gabriel, and
U Langenbeck, and
J Berden, and
R Berger, and
R B Schutgens
January 1990,
European neurology,
A W Behbehani, and
H Goebel, and
G Osse, and
M Gabriel, and
U Langenbeck, and
J Berden, and
R Berger, and
R B Schutgens
July 1989,
Rinsho shinkeigaku = Clinical neurology,
A W Behbehani, and
H Goebel, and
G Osse, and
M Gabriel, and
U Langenbeck, and
J Berden, and
R Berger, and
R B Schutgens
January 1989,
Revue neurologique,
A W Behbehani, and
H Goebel, and
G Osse, and
M Gabriel, and
U Langenbeck, and
J Berden, and
R Berger, and
R B Schutgens
January 1982,
Problemy endokrinologii,
