Glycogen storage disease, Fanconi nephropathy, abnormal galactose metabolism and mitochondrial myopathy

H. Hurvitz; O. N. Elpeleg; V. Barash; E. Kerem; R. M. Reifen; W. Ruitenbeek; C. Mor; D. Branski

doi:10.1007/BF02024334

Glycogen storage disease, Fanconi nephropathy, abnormal galactose metabolism and mitochondrial myopathy

H. Hurvitz^*, O. N. Elpeleg, V. Barash, E. Kerem, R. M. Reifen, W. Ruitenbeek, C. Mor, D. Branski

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

12 Scopus citations

Abstract

We present a 4-year-old male suffering from profound muscular weakness, enzymatically undefined glycogen storage disease. Fanconi nephropathy and impaired galactose utilization. Distorted mitochondria, intramitochondrial fat droplets and partial deficiencies of pyruvate dehydrogenase complex, succinate: cytochrome c oxidoreductase, and cytochrome c oxidase have been found in muscle tissue. The causal relationship between mitochondrial myopathy, glycogen storage disease, Fanconi nephropathy and impaired utilization of galactose is discussed.

Original language	English
Pages (from-to)	48-51
Number of pages	4
Journal	European Journal of Pediatrics
Volume	149
Issue number	1
DOIs	https://doi.org/10.1007/BF02024334
State	Published - Oct 1989
Externally published	Yes

Keywords

Fanconi nephropathy
Galactose
Glycogen storage disease
Mitochondrial myopathy

Access to Document

10.1007/BF02024334

Cite this

@article{c6125780c3a94000b8d47fab06dfb09f,

title = "Glycogen storage disease, Fanconi nephropathy, abnormal galactose metabolism and mitochondrial myopathy",

abstract = "We present a 4-year-old male suffering from profound muscular weakness, enzymatically undefined glycogen storage disease. Fanconi nephropathy and impaired galactose utilization. Distorted mitochondria, intramitochondrial fat droplets and partial deficiencies of pyruvate dehydrogenase complex, succinate: cytochrome c oxidoreductase, and cytochrome c oxidase have been found in muscle tissue. The causal relationship between mitochondrial myopathy, glycogen storage disease, Fanconi nephropathy and impaired utilization of galactose is discussed.",

keywords = "Fanconi nephropathy, Galactose, Glycogen storage disease, Mitochondrial myopathy",

author = "H. Hurvitz and Elpeleg, {O. N.} and V. Barash and E. Kerem and Reifen, {R. M.} and W. Ruitenbeek and C. Mor and D. Branski",

year = "1989",

month = oct,

doi = "10.1007/BF02024334",

language = "אנגלית",

volume = "149",

pages = "48--51",

journal = "European Journal of Pediatrics",

issn = "0340-6199",

publisher = "Springer Science and Business Media Deutschland GmbH",

number = "1",

}

TY - JOUR

T1 - Glycogen storage disease, Fanconi nephropathy, abnormal galactose metabolism and mitochondrial myopathy

AU - Hurvitz, H.

AU - Elpeleg, O. N.

AU - Barash, V.

AU - Kerem, E.

AU - Reifen, R. M.

AU - Ruitenbeek, W.

AU - Mor, C.

AU - Branski, D.

PY - 1989/10

Y1 - 1989/10

N2 - We present a 4-year-old male suffering from profound muscular weakness, enzymatically undefined glycogen storage disease. Fanconi nephropathy and impaired galactose utilization. Distorted mitochondria, intramitochondrial fat droplets and partial deficiencies of pyruvate dehydrogenase complex, succinate: cytochrome c oxidoreductase, and cytochrome c oxidase have been found in muscle tissue. The causal relationship between mitochondrial myopathy, glycogen storage disease, Fanconi nephropathy and impaired utilization of galactose is discussed.

AB - We present a 4-year-old male suffering from profound muscular weakness, enzymatically undefined glycogen storage disease. Fanconi nephropathy and impaired galactose utilization. Distorted mitochondria, intramitochondrial fat droplets and partial deficiencies of pyruvate dehydrogenase complex, succinate: cytochrome c oxidoreductase, and cytochrome c oxidase have been found in muscle tissue. The causal relationship between mitochondrial myopathy, glycogen storage disease, Fanconi nephropathy and impaired utilization of galactose is discussed.

KW - Fanconi nephropathy

KW - Galactose

KW - Glycogen storage disease

KW - Mitochondrial myopathy

UR - http://www.scopus.com/inward/record.url?scp=0024463804&partnerID=8YFLogxK

U2 - 10.1007/BF02024334

DO - 10.1007/BF02024334

M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???

C2 - 2606128

AN - SCOPUS:0024463804

SN - 0340-6199

VL - 149

SP - 48

EP - 51

JO - European Journal of Pediatrics

JF - European Journal of Pediatrics

IS - 1

ER -

Glycogen storage disease, Fanconi nephropathy, abnormal galactose metabolism and mitochondrial myopathy

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Cite this