A shortage of the BCKD enzyme lets leucine, isoleucine and valine build up; testing BCKDHA, BCKDHB and DBT confirms this milder form of maple syrup urine disease.
Aging, obesity, smoking and occupational strain contribute to IVDD, and gene variants add to that risk; DNA testing can flag people more likely to be affected.
Chemotherapy with irinotecan works differently from person to person; MTHFR and other drug-metabolizing gene variants help explain toxicity and clinical benefit.
Early fusion of the coronal suture can leave the skull asymmetrical and press on the brain; TCF12 findings and FGF7, SFRP4 and VCAM1 expression are discussed.
Neonatal-onset epilepsy, developmental delays and intellectual disability follow KCNQ2 mutations, and the variant itself is linked to how severe the disorder is.
TPMT genotypes, the MTHFR C677T and A1298C polymorphisms and NAT1 and NAT2 haplotypes have all been studied as risk modifiers in childhood ALL.
White matter disease in children can bring developmental delay, motor dysfunction and cognitive problems, and DNA testing separates the subtypes.
Some antibiotics, antipsychotics, antiarrhythmics and antihistamines can stretch the QT interval, and an inherited predisposition raises the chance that they will.