Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency

Preferred Label : Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency;

Symbol : LSMFLAD;

CISMeF acronym : LSMFLAD;

Type : Phenotype, molecular basis known;

Description : Bradley et al. (1969) described the case of a 25-year-old woman, offspring of first-cousin parents, with myopathy involving the muscles of the neck and proximal limbs. Muscle biopsy showed interfibrillar and subsarcolemmal vacuoles; histochemical study, normal type-II muscle fibers with excessive neutral fat and free fatty acids in type-I fibers and electron microscopy, degenerate mitochondria. The defect may reside in the pathway of free fatty acid oxidation. A specific lipase may be deficient. See 212160. *FIELD* SA Martyn et al. (1981) *FIELD* RF 1. Bradley, W. G.; Hudgson, P.; Gardner-Medwin, D.; Walton, J. N. : Myopathy associated with abnormal lipid metabolism in skeletal muscle. Lancet 293: 495-498, 1969. Note: Originally Volume 1. 2. Martyn, C.; Jellinek, E. H.; Webb, J. N.: Lipid storage myopathy: successful treatment with propranolol. Brit. Med. J. 282: 1997-1998, 1981. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the flavin adenine dinucleotide synthetase 1 gene (FLAD1, 610595.0001);

Laboratory abnormalities : Increased serum creatine kinase (in some patients); Organic aciduria; Increased plasma acylcarnitine species; Increased urinary ethylmalonic acid; Increased urinary adipic acid;

Prefixed ID : #255100;

Details

Origin ID

255100;

UMLS CUI

C4310822;

Currated CISMeF NLP mapping
- Lipid storage myopathy (disorder) [SNOMED CT concept]
- Muscular lipidosis [ORDO Disease]
- lipid storage myopathy [Disease (Nov.)]
- myopathy with abnormal lipid metabolism [MeSH concept]
- myopathy with abnormal lipid metabolism [MeSH Supplementary Concept]
Genes related to phenotype
- Flavin adenine dinucleotide synthetase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Dysphagia [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise intolerance [HPO term]
- Fatty replacement of skeletal muscle [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Myopathy [HPO term]
- Organic aciduria [HPO term]
- Proximal muscle weakness [HPO term]
- Respiratory insufficiency [HPO term]
- Scoliosis [HPO term]
- Supraventricular tachycardia [HPO term]
ORDO concept(s)
- Multiple acyl-CoA dehydrogenase deficiency, mild type [ORDO Disease]
- Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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