Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency; Lsmflad

Description

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).

Clinical Features

Top most frequent phenotypes and symptoms related to Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency; Lsmflad

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Feeding difficulties
  • Visual impairment
  • Peripheral neuropathy
  • Dysphagia
  • Respiratory insufficiency
  • Cardiomyopathy
  • Myopathy

And another 7 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency; Lsmflad Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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RYR1, SLC22A5, SUCLA2, TAZ, TWNK, TK2, LPIN1, SLC25A20, RBCK1, COQ8A, RRM2B, PDSS1, FKRP, ABHD5, ACAD9, PDSS2, CPT1A, CPT2, SIL1, FLAD1 , (...)

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2 %
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Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection.

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SLC22A5, TAZ, LPIN1, SLC25A20, ACAD9, CPT1A, CPT2, FLAD1, DECR1, ECHS1, ETFA, ETFB, ETFDH, HADH, HSD17B10, HADHA, HADHB, HMGCL, HMGCS2, MLYCD , (...)

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4 %
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100 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.

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BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB , (...)

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Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

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BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

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Specificity
1 %
Genes
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Epilepsy and Mitochondrial Encephalopathy.

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SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SGCE, SLC19A2, SLC25A12, SLC25A3, SLC25A4, SLC2A1, SLC6A8, SPG7, SPTAN1, CDKL5 , (...)

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BCS1L, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC22A5, SLC25A12, SLC25A3, SLC25A4, SLC6A8, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TIMM8A , (...)

View the complete list with 148 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center (Germany).

BCS1L, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC25A12, SLC25A3, SLC25A4, SLC6A8, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TIMM8A, TK2 , (...)

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Specificity
1 %
Genes
100 %
Epilepsy.

By MGZ Medical Genetics Center (Germany).

SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SGCE, SLC19A2, SLC25A12, SLC25A3, SLC25A4, SLC2A1, SLC6A8, SPG7, SPTAN1, CDKL5 , (...)

View the complete list with 192 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

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