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.

Click here to know more about Mendelian.

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.

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

Panel Name, Specifity and genes Tested/covered
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel.

By PreventionGenetics PreventionGenetics (United States).

RYR1, SLC22A5, SUCLA2, TAZ, TWNK, TK2, LPIN1, SLC25A20, RBCK1, COQ8A, RRM2B, PDSS1, FKRP, ABHD5, ACAD9, PDSS2, CPT1A, CPT2, SIL1, FLAD1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

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

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

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

View the complete list with 154 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

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

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
Epilepsy and Mitochondrial Encephalopathy.

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 166 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Diseases.

By MGZ Medical Genetics Center (Germany).

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 , (...)

View the complete list with 111 more genes
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 %

You can get up to 5 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WHITE-SUTTON SYNDROME; WHSUS PARKINSON DISEASE, LATE-ONSET; PD HYPOTRICHOSIS 8; HYPT8 EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51