Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases

Citations Over Time

Abstract

Myoadenylate deaminase deficiency (MADD) is the most common metabolic muscle disorder. Here we report the largest study to date of MADD in Spanish patients, including clinical, histological, and molecular data. Most of the patients presented with moderate clinical symptoms of exercise intolerance, including myalgia, fatigability and cramps. In 70% of the patients, serum creatine kinase (CK) was elevated. Muscle biopsy showed mild, nonspecific alterations with absent histochemical reaction for MAD. Eight cases ofMADD were coincidental with other associated diseases, and had more severe tissue alterations upon muscle biopsy. The mutation C34T in the MAD gene was present in a homozygous state in 26 of the 27 patients. One patient was a compound heterozygote for the C34T/G468T mutations. We conclude that MADD should be suspected in patients with exercise intolerance and with idiopathic hyperCKemia. Since symptoms may be subtle, we recommend routine histochemical analysis of MAD in all muscle biopsies, followed by molecular analysis in MAD-negative cases.

Related Papers

• → Myoadenylate deaminase deficiency: absence of correlation with exercise intolerance in 452 muscle biopsies(1987)34 cited
• → Glycogen storage disease type V (Mc Ardle′s disease): A report on three cases(2011)3 cited
• → Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the ACADVL Gene(2023)2 cited
• → Trp64Arg Variant of theβ 3-Adrenoceptor and Insulin Resistance in Obese Postmenopausal Women1(1998)33 cited
• → Thyrotropin and Propylthiouracil-Induced Stimulation of Thyroidal Creatine Phosphokinase and Lactic Dehydrogenase in the Rat(1967)4 cited