An unusual presentation of type III late onset multiple-acyl-CoA dehydrogenase deficiency leading to a review of its classification system.
J R Coll Physicians Edinb
; 52(3): 256-258, 2022 09.
Article
in En
| MEDLINE
| ID: mdl-36369806
ABSTRACT
Multiple-acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessive disorder which can be split into three types. Type III MADD is associated with acute or subacute proximal muscle weakness and other variable non-specific features making it a challenging diagnosis for the clinician. This case report describes MADD in a 64 year-old lady, thought to be one of the latest first presentations of the disease. Unusually for this condition, the initial presentation was with dyspnoea. Furthermore, since this case provides further evidence that gene variants can predict age of onset, we advocate for further subclassification of type III MADD into late onset MADD (LO-MADD) when homozygous gene variants are present and very LO-MADD when heterozygous gene variants are found.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Acyl-CoA Dehydrogenases
/
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
/
Oxidoreductases Acting on CH-NH Group Donors
/
Iron-Sulfur Proteins
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Female
/
Humans
/
Middle aged
Language:
En
Journal:
J R Coll Physicians Edinb
Journal subject:
EDUCACAO
/
HISTORIA DA MEDICINA
/
MEDICINA
Year:
2022
Document type:
Article
Affiliation country:
Reino Unido