Pyruvate Decarboxylase Deficiency in Subacute Necrotizing Encephalomyelopathy

Evans, Owen B.

doi:10.1001/archneur.1981.00510080077012

Cited by 53 publications

(10 citation statements)

References 37 publications

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“…Defects in pyruvate dehydrogenase have also been found to be generalized but to differ from organ to organ. 18,20,24,25 Organs affected may be those with decreased levels of enzyme or an altered enzyme. The age of onset may depend on the severity of enzyme deficit.…”

Section: Discussionmentioning

confidence: 99%

Juvenile Leigh's Encephalomyelopathy With Peripheral Neuropathy, Myopathy, and Cardiomyopathy

Grunnet

Zalneraitis

Russman³

et al. 1991

J Child Neurol

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A child with typical histopathologic changes of Leigh's subacute necrotizing encephalomyelopathy presented with a chronic demyelinating neuropathy. During her 11-year course, she developed an unusual myopathy and cardiomyopathy in addition to many of the previously described manifestations of Leigh's disease. Despite an extensive evaluation, the biochemical basis of her condition was never identified. This case demonstrates another unique constellation of clinical alterations associated with subacute necrotizing encephalomyelopathy, and that chronic demyelinating neuropathy can be an important initial presentation of the disease.

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Section: Discussionmentioning

confidence: 99%

Juvenile Leigh's Encephalomyelopathy With Peripheral Neuropathy, Myopathy, and Cardiomyopathy

Grunnet

Zalneraitis

Russman³

et al. 1991

J Child Neurol

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“…The clinical picture shows progressive neurologic deterioration in infancy, leading to death from respiratory ar rest [1]. The following mitochondrial enzymat ic deficiencies are implicated in the pathogene sis of this disease: pyruvate decarboxylase [9,10], cytochrome C oxidase [8] and pyruvate carboxylase [11]. The infant described above showed pathological brain findings typical of Leigh's disease [1,8],…”

Section: Discussionmentioning

confidence: 99%

Light and Electron Microscopic Retinal Findings in Leigh’s Disease

Kremer

Lerman‐Sagie²,

Mukamel³

et al. 1989

Ophthalmologica

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Funduscopic and retinal light- and electron-microscopic findings are described in an infant with progressive neurologic deterioration leading to death. Brain autopsy findings were consistent with Leigh’s disease. The retinal mitochondria showed marked degenerative changes, the cristae were almost completely destroyed and electron-dense material filled a major part of the cavity. These changes are typically described in the late stages of mitochondrial diseases but have not been described before in retinal mitochondria in a patient with Leigh’s disease.

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“…SNE seems not to be a single disease entity but to consist not heterogenous group of diseases on a metabolic basis, such as PDHC deficiency [5,8,10,11,19,22,25,26], PC deficiency [13][14][15]24] or cytochrome c oxidase deficiency [27]. PDHC deficiency seems to be a cause of SNE but the patients with PDHC deficiency do not always develop SNE.…”

Section: Discussionmentioning

confidence: 99%

Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy

et al. 1985

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An enzymatic study of cultured skin fibroblasts was made in 28 patients with lactic acidosis. In three of these patients a diagnosis of Leigh's encephalomyelopathy was established from autopsy findings. Pyruvate decarboxylase (PDC) deficiency was found in four patients. In two of them, in whom Leigh's encephalomyelopathy was proved by autopsy, PDC activity was lower than 10% of the normal. The other two living patients, who showed 22%-25% of the normal activity, had clinical symptoms and courses different from Leigh's disease. These findings suggest that the patients with severe PDC deficiency develop Leigh's disease but those with mild deficiency may not. A deficiency of cytochrome c oxidase was found in two siblings. One of them, who was diagnosed as having Leigh's encephalomyelopathy by postmortem examination, showed a reduction of cytochrome c oxidase in the liver and brain. In the other sibling, who is living, the reduction of cytochrome c oxidase was demonstrated in the cultured skin fibroblasts and biopsied muscle. In an electron-microscopic study of biopsied muscle, two patients with mitochondrial myopathy were found. Their fundamental enzymatic defects were unclear. In two patients, in whom Leigh's disease was suspected following a brain CT, the production of 14CO2 from [3-14C] pyruvate was found to be low; suggesting a reduced activity of the TCA cycle. In another 18 patients, the fundamental defect was not clear.

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Pyruvate Decarboxylase Deficiency in Subacute Necrotizing Encephalomyelopathy

Cited by 53 publications

References 37 publications

Juvenile Leigh's Encephalomyelopathy With Peripheral Neuropathy, Myopathy, and Cardiomyopathy

Juvenile Leigh's Encephalomyelopathy With Peripheral Neuropathy, Myopathy, and Cardiomyopathy

Light and Electron Microscopic Retinal Findings in Leigh’s Disease

Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy

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