LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY; LSMFLAD

Q: What is LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY; LSMFLAD?

rare autosomal recessive mutation in the FLAD1 gene FLAD1 variants as a cause of potentially treatable inborn errors of metabolism manifesting with MADD [Olsen RKJ et al. 2016]

Question 1

What is  LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY; LSMFLAD?

Accepted Answer

rare
autosomal recessive
mutation in the FLAD1 gene
FLAD1 variants as a cause of potentially treatable inborn errors of metabolism manifesting with MADD [Olsen RKJ et al. 2016]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Multipler Acyl-CoA-Dehydrogenase-Mangel ???

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 255100

Question 4

Which enzymes are involved?

Accepted Answer

FAD synthase

Disease	LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY; LSMFLAD
OMIM	255100 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	FAD synthase
ExPASy	2.7.7.2
Gene locus	1q21.3
ICD
Summary	rare autosomal recessive mutation in the FLAD1 gene FLAD1 variants as a cause of potentially treatable inborn errors of metabolism manifesting with MADD [Olsen RKJ et al. 2016]
Laboratory findings	Hexanoylglycine normal/inc (urine) 2-Methylsuccinic acid normal/inc (urine) Acylcarnitine (C2) inc (urine) Adipic acid normal/inc (urine) Creatine kinase inc (serum) Ethylmalonic acid inc (urine) Suberic acid normal/inc (urine) Tiglylglycine normal/inc (urine)
Symptoms	tachykardia cardiac arrest cardiomyopathy cataract early death exercise intolerance feeding difficulties, poor feeding gait disturbance hypotonia infections (severe or recurrent) muscle weakness myopathy onset, adulthood onset, infancy respiratory insufficiency scoliosis speech difficulties swallowing difficulties tachykardia, paroxysmal