TY - JOUR
T1 - Avoiding Premature Diagnostic Closure
T2 - Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology
AU - Salazar-Villacorta, Ainara
AU - Spaull, Robert
AU - Chowdhury, Samyami
AU - Mukhtyar, Bina
AU - Chitre, Manali
AU - Armstrong, Ruth
AU - Sa, Mario
AU - Chandratre, Saleel
AU - Kini, Usha
AU - Chinthapalli, Ravi
AU - Mankad, Kshitij
AU - Sudhakar, Sniya
AU - Pope, Simon
AU - Heales, Simon
AU - Kurian, Manju A
PY - 2024/9/13
Y1 - 2024/9/13
N2 - Inherited disorders of neurotransmitter metabolism comprise an expanding heterogeneous spectrum of diseases associated with complex movement disorders, autonomic features, and global developmental delay (GDD).1, 2 Monoamine neurotransmitter disorders (NTD) are due to primary or secondary defects in the biosynthesis, degradation or transport of dopamine, norepinephrine, epinephrine, and serotonin. Here, we describe two patients where the diagnosis of a treatable NTD was confounded by the presence of dual pathology.
AB - Inherited disorders of neurotransmitter metabolism comprise an expanding heterogeneous spectrum of diseases associated with complex movement disorders, autonomic features, and global developmental delay (GDD).1, 2 Monoamine neurotransmitter disorders (NTD) are due to primary or secondary defects in the biosynthesis, degradation or transport of dopamine, norepinephrine, epinephrine, and serotonin. Here, we describe two patients where the diagnosis of a treatable NTD was confounded by the presence of dual pathology.
U2 - 10.1002/mdc3.14164
DO - 10.1002/mdc3.14164
M3 - Article (Academic Journal)
C2 - 39082248
SN - 2330-1619
VL - 11
SP - 1149
EP - 1152
JO - Movement Disorders Clinical Practice
JF - Movement Disorders Clinical Practice
IS - 9
ER -