Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency

R K J Olsen; M Pourfarzam; A A M Morris; R C Dias; I Knudsen; B S Andresen; N Gregersen; S E Olpin

doi:10.1023/b:boli.0000042986.10291.e9

Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency

R K J Olsen, M Pourfarzam, A A M Morris, R C Dias, I Knudsen, B S Andresen, N Gregersen, S E Olpin

Aarhus University Hospital

Research output: Contribution to journal › Journal article › Research › peer-review

Abstract

We report a patient with lipid-storage myopathy due to multiple acyl-CoA dehydrogenation deficiency (MADD). Molecular genetic analysis showed that she was compound heterozygous for mutations in the gene for electron transfer flavoprotein:ubiquinone oxidoreductase (ETFQO). Despite a good initial response to treatment, she developed respiratory insufficiency at age 14 years and has required long-term overnight ventilation. Thus, MADD is one of the few conditions that can cause a myopathy with weakness of the respiratory muscles out of proportion to the limb muscles.

Original language	English
Journal	Journal of Inherited Metabolic Disease
Volume	27
Issue number	5
Pages (from-to)	671-678
ISSN	0141-8955
DOIs	https://doi.org/10.1023/b:boli.0000042986.10291.e9
Publication status	Published - 2004
Externally published	Yes

Keywords

Acyl-CoA Dehydrogenases
Adolescent
Age of Onset
Base Sequence
Blotting, Western
DNA Mutational Analysis
DNA, Complementary
Electron Transport Complex I
Electron-Transferring Flavoproteins
Female
Fibroblasts
Heterozygote
Humans
Iron-Sulfur Proteins
Lipid Metabolism
Lipid Metabolism, Inborn Errors
Models, Genetic
Molecular Sequence Data
Muscular Diseases
Mutation
Oxidoreductases Acting on CH-NH Group Donors
Phenotype
Respiration, Artificial

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10.1023/b:boli.0000042986.10291.e9

Cite this

Olsen, R. K. J., Pourfarzam, M., Morris, A. A. M., Dias, R. C., Knudsen, I., Andresen, B. S., Gregersen, N., & Olpin, S. E. (2004). Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency. Journal of Inherited Metabolic Disease, 27(5), 671-678. https://doi.org/10.1023/b:boli.0000042986.10291.e9

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title = "Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency",

abstract = "We report a patient with lipid-storage myopathy due to multiple acyl-CoA dehydrogenation deficiency (MADD). Molecular genetic analysis showed that she was compound heterozygous for mutations in the gene for electron transfer flavoprotein:ubiquinone oxidoreductase (ETFQO). Despite a good initial response to treatment, she developed respiratory insufficiency at age 14 years and has required long-term overnight ventilation. Thus, MADD is one of the few conditions that can cause a myopathy with weakness of the respiratory muscles out of proportion to the limb muscles.",

keywords = "Acyl-CoA Dehydrogenases, Adolescent, Age of Onset, Base Sequence, Blotting, Western, DNA Mutational Analysis, DNA, Complementary, Electron Transport Complex I, Electron-Transferring Flavoproteins, Female, Fibroblasts, Heterozygote, Humans, Iron-Sulfur Proteins, Lipid Metabolism, Lipid Metabolism, Inborn Errors, Models, Genetic, Molecular Sequence Data, Muscular Diseases, Mutation, Oxidoreductases Acting on CH-NH Group Donors, Phenotype, Respiration, Artificial",

author = "Olsen, {R K J} and M Pourfarzam and Morris, {A A M} and Dias, {R C} and I Knudsen and Andresen, {B S} and N Gregersen and Olpin, {S E}",

year = "2004",

doi = "10.1023/b:boli.0000042986.10291.e9",

language = "English",

volume = "27",

pages = "671--678",

journal = "Journal of Inherited Metabolic Disease",

issn = "0141-8955",

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Olsen, RKJ, Pourfarzam, M, Morris, AAM, Dias, RC, Knudsen, I, Andresen, BS, Gregersen, N & Olpin, SE 2004, 'Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency', Journal of Inherited Metabolic Disease, vol. 27, no. 5, pp. 671-678. https://doi.org/10.1023/b:boli.0000042986.10291.e9

TY - JOUR

T1 - Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency

AU - Olsen, R K J

AU - Pourfarzam, M

AU - Morris, A A M

AU - Dias, R C

AU - Knudsen, I

AU - Andresen, B S

AU - Gregersen, N

AU - Olpin, S E

PY - 2004

Y1 - 2004

N2 - We report a patient with lipid-storage myopathy due to multiple acyl-CoA dehydrogenation deficiency (MADD). Molecular genetic analysis showed that she was compound heterozygous for mutations in the gene for electron transfer flavoprotein:ubiquinone oxidoreductase (ETFQO). Despite a good initial response to treatment, she developed respiratory insufficiency at age 14 years and has required long-term overnight ventilation. Thus, MADD is one of the few conditions that can cause a myopathy with weakness of the respiratory muscles out of proportion to the limb muscles.

AB - We report a patient with lipid-storage myopathy due to multiple acyl-CoA dehydrogenation deficiency (MADD). Molecular genetic analysis showed that she was compound heterozygous for mutations in the gene for electron transfer flavoprotein:ubiquinone oxidoreductase (ETFQO). Despite a good initial response to treatment, she developed respiratory insufficiency at age 14 years and has required long-term overnight ventilation. Thus, MADD is one of the few conditions that can cause a myopathy with weakness of the respiratory muscles out of proportion to the limb muscles.

KW - Acyl-CoA Dehydrogenases

KW - Adolescent

KW - Age of Onset

KW - Base Sequence

KW - Blotting, Western

KW - DNA Mutational Analysis

KW - DNA, Complementary

KW - Electron Transport Complex I

KW - Electron-Transferring Flavoproteins

KW - Female

KW - Fibroblasts

KW - Heterozygote

KW - Humans

KW - Iron-Sulfur Proteins

KW - Lipid Metabolism

KW - Lipid Metabolism, Inborn Errors

KW - Models, Genetic

KW - Molecular Sequence Data

KW - Muscular Diseases

KW - Mutation

KW - Oxidoreductases Acting on CH-NH Group Donors

KW - Phenotype

KW - Respiration, Artificial

U2 - 10.1023/b:boli.0000042986.10291.e9

DO - 10.1023/b:boli.0000042986.10291.e9

M3 - Journal article

C2 - 15669683

SN - 0141-8955

VL - 27

SP - 671

EP - 678

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 5

ER -

Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency

Abstract

Keywords

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