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Myopathy with abnormal lipid metabolism(LSMFLAD)

MedGen UID:
934789
Concept ID:
C4310822
Disease or Syndrome
Synonym: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
 
Gene (location): FLAD1 (1q21.3)
 
Monarch Initiative: MONDO:0009703
OMIM®: 255100

Definition

Lipid storage myopathy due to FLAD1 deficiency is an autosomal recessive inborn error of metabolism that includes variable mitochondrial dysfunction. The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment (summary by Olsen et al., 2016). [from OMIM]

Clinical features

From HPO
Exercise intolerance
MedGen UID:
603270
Concept ID:
C0424551
Finding
A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.
Inborn organic aciduria
MedGen UID:
66037
Concept ID:
C0241775
Finding
Excretion of non-amino organic acids in urine.
Supraventricular tachycardia
MedGen UID:
52635
Concept ID:
C0039240
Disease or Syndrome
Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Myopathy
MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Proximal muscle weakness
MedGen UID:
113169
Concept ID:
C0221629
Finding
A lack of strength of the proximal muscles.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Fatty replacement of skeletal muscle
MedGen UID:
866735
Concept ID:
C4021082
Finding
Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers
Respiratory insufficiency
MedGen UID:
11197
Concept ID:
C0035229
Pathologic Function
Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.
Elevated circulating creatine kinase concentration
MedGen UID:
69128
Concept ID:
C0241005
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Decreased activity of mitochondrial complex I
MedGen UID:
393796
Concept ID:
C2677650
Finding
A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.
Decreased activity of mitochondrial complex IV
MedGen UID:
866520
Concept ID:
C4020800
Finding
A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.

Professional guidelines

PubMed

Kleefeld F, von Renesse A, Dittmayer C, Harms L, Radke J, Radbruch H, Goebel HH, Pache F, Schneider U, Schuelke M, Uruha A, Stenzel W
Neuropathol Appl Neurobiol 2022 Feb;48(1):e12731. Epub 2021 May 21 doi: 10.1111/nan.12731. PMID: 33969514

Recent clinical studies

Etiology

Sadeh M, Dory A, Lev D, Yosovich K, Dabby R
J Neurol Sci 2024 Jan 15;456:122808. Epub 2023 Nov 24 doi: 10.1016/j.jns.2023.122808. PMID: 38043332
Han J, Lu S, Song X, Jı G, Xıe Y, Wu H
Turk J Med Sci 2022 Aug;52(4):1256-1265. Epub 2022 Aug 10 doi: 10.55730/1300-0144.5431. PMID: 36326420Free PMC Article
Nilipour Y, Fatehi F, Sanatinia S, Bradshaw A, Duff J, Lochmüller H, Horvath R, Nafissi S
J Neurol Sci 2020 Apr 15;411:116707. Epub 2020 Jan 23 doi: 10.1016/j.jns.2020.116707. PMID: 32007756
Han J, Song X, Lu S, Ji G, Xie Y, Wu H
Med Sci Monit 2019 Nov 30;25:9103-9111. doi: 10.12659/MSM.918841. PMID: 31785094Free PMC Article
Liu XY, Jin M, Wang ZQ, Wang DN, He JJ, Lin MT, Fu HX, Wang N
Chin Med J (Engl) 2016 Jun 20;129(12):1425-31. doi: 10.4103/0366-6999.183423. PMID: 27270537Free PMC Article

Diagnosis

Han J, Lu S, Song X, Jı G, Xıe Y, Wu H
Turk J Med Sci 2022 Aug;52(4):1256-1265. Epub 2022 Aug 10 doi: 10.55730/1300-0144.5431. PMID: 36326420Free PMC Article
Pan X, Yuan Y, Wu B, Zheng W, Tian M
J Int Med Res 2022 Mar;50(3):3000605221084873. doi: 10.1177/03000605221084873. PMID: 35296144Free PMC Article
Xu H, Chen X, Lian Y, Wang S, Ji T, Zhang L, Li S
Int J Neurosci 2020 Dec;130(12):1192-1198. Epub 2020 Mar 9 doi: 10.1080/00207454.2020.1730831. PMID: 32064983
Han J, Song X, Lu S, Ji G, Xie Y, Wu H
Med Sci Monit 2019 Nov 30;25:9103-9111. doi: 10.12659/MSM.918841. PMID: 31785094Free PMC Article
Aguennouz M, Beccaria M, Purcaro G, Oteri M, Micalizzi G, Musumesci O, Ciranni A, Di Giorgio RM, Toscano A, Dugo P, Mondello L
J Chromatogr B Analyt Technol Biomed Life Sci 2016 Sep 1;1029-1030:157-168. Epub 2016 Jul 1 doi: 10.1016/j.jchromb.2016.06.039. PMID: 27428459

Therapy

Sadeh M, Dory A, Lev D, Yosovich K, Dabby R
J Neurol Sci 2024 Jan 15;456:122808. Epub 2023 Nov 24 doi: 10.1016/j.jns.2023.122808. PMID: 38043332
Han J, Lu S, Song X, Jı G, Xıe Y, Wu H
Turk J Med Sci 2022 Aug;52(4):1256-1265. Epub 2022 Aug 10 doi: 10.55730/1300-0144.5431. PMID: 36326420Free PMC Article
Paul P, Vazquez Do Campo R, Liewluck T, Naddaf E
Neuromuscul Disord 2021 Jun;31(6):546-550. Epub 2021 Mar 22 doi: 10.1016/j.nmd.2021.03.004. PMID: 33903020
Xu H, Chen X, Lian Y, Wang S, Ji T, Zhang L, Li S
Int J Neurosci 2020 Dec;130(12):1192-1198. Epub 2020 Mar 9 doi: 10.1080/00207454.2020.1730831. PMID: 32064983
Xu Y, Zhou L, Liang W, He W, Liu X, Liang X, Zhong N, Li Y
Arch Iran Med 2015 Aug;18(8):545-8. PMID: 26265524

Prognosis

Sadeh M, Dory A, Lev D, Yosovich K, Dabby R
J Neurol Sci 2024 Jan 15;456:122808. Epub 2023 Nov 24 doi: 10.1016/j.jns.2023.122808. PMID: 38043332
Han J, Lu S, Song X, Jı G, Xıe Y, Wu H
Turk J Med Sci 2022 Aug;52(4):1256-1265. Epub 2022 Aug 10 doi: 10.55730/1300-0144.5431. PMID: 36326420Free PMC Article
Paul P, Vazquez Do Campo R, Liewluck T, Naddaf E
Neuromuscul Disord 2021 Jun;31(6):546-550. Epub 2021 Mar 22 doi: 10.1016/j.nmd.2021.03.004. PMID: 33903020
Xu H, Chen X, Lian Y, Wang S, Ji T, Zhang L, Li S
Int J Neurosci 2020 Dec;130(12):1192-1198. Epub 2020 Mar 9 doi: 10.1080/00207454.2020.1730831. PMID: 32064983
McNamee A, Robertson T, Sounness B, O'Gorman P
Clin Nucl Med 2018 Sep;43(9):e316-e318. doi: 10.1097/RLU.0000000000002174. PMID: 30004941

Clinical prediction guides

Sadeh M, Dory A, Lev D, Yosovich K, Dabby R
J Neurol Sci 2024 Jan 15;456:122808. Epub 2023 Nov 24 doi: 10.1016/j.jns.2023.122808. PMID: 38043332
Han J, Lu S, Song X, Jı G, Xıe Y, Wu H
Turk J Med Sci 2022 Aug;52(4):1256-1265. Epub 2022 Aug 10 doi: 10.55730/1300-0144.5431. PMID: 36326420Free PMC Article
Xu H, Chen X, Lian Y, Wang S, Ji T, Zhang L, Li S
Int J Neurosci 2020 Dec;130(12):1192-1198. Epub 2020 Mar 9 doi: 10.1080/00207454.2020.1730831. PMID: 32064983
Liu XY, Jin M, Wang ZQ, Wang DN, He JJ, Lin MT, Fu HX, Wang N
Chin Med J (Engl) 2016 Jun 20;129(12):1425-31. doi: 10.4103/0366-6999.183423. PMID: 27270537Free PMC Article
Angelini C, Nascimbeni AC, Cenacchi G, Tasca E
Biochim Biophys Acta 2016 Jul;1862(7):1367-73. Epub 2016 Apr 13 doi: 10.1016/j.bbadis.2016.04.008. PMID: 27085974Free PMC Article

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