Severe infantile hypotonia with ethylmalonic aciduria: case report.
An 8-month-old girl was admitted to an outpatient clinic with significant hypotonia and weakness. Organic acid analysis in urine revealed a significant increase in ethylmalonic acid. A deoxyribonucleic analysis revealed the presence of a 625G>A (G-to-A substitution at nucleotide 625) variant short-chain acyl-coenzyme A dehydrogenase gene polymorphism. With the clinical, biochemical and molecular findings, short-chain acyl-coenzyme A dehydrogenase deficiency was suspected. Because 625G>A and 511C>T (C-to-T substitution at nucleotide 511) genetic variations are also present in 14% of the general population, these are considered to be genetic sensitivity variations rather than causing a disease themselves and to result in possible short-chain acyl-coenzyme A dehydrogenase deficiency in the presence of environmental factors such as fever and hunger as well as cellular, biochemical, and other genetic factors. It was stressed that severe infantile hypotonia could also be the only manifestation of ethylmalonic aciduria spectrum disorders.
Okuyaz
Cetin
C
Department of Pediatrics, Division of the Pediatric Neurology, Mersin University Medical Faculty, Mersin, Turkey. okuyazc@mersin.edu.tr
Ezgü
Fatih Süheyl
FS
Biberoglu
Gürsel
G
Zeviani
Massimo
M
Tiranti
Valeria
V
Yilgör
Esat
E
D000483:Alleles; D044926:Butyryl-CoA Dehydrogenase / Q000172:deficiency* / Q000235:genetics*; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics / Q000652:urine; D003937:Diagnosis, Differential; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics* / Q000652:urine; D008314:Malonates / Q000652:urine*; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics* / Q000652:urine; D018908:Muscle Weakness / Q000175:diagnosis / Q000235:genetics* / Q000652:urine; D009460:Neurologic Examination; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics
D008314:Malonates; C038080:ethylmalonic acid; D044926:Butyryl-CoA Dehydrogenase