SLC6A8, GAMT and GATM gene Also known as: creatine deficiency syndromes, CCDS Include: creatine deficiency syndrome x-linked or creatine transporter defect OMIM#300352 https://omim.org/entry/300352 Guanidinoacetate methyltransferase deficiency (GAMT deficiency) OMIM#612736...
SLC22A5 gene Also known as: Carnitine Transport Defect; Carnitine Uptake Defect; CDSP OMIM#212140 https://omim.org/entry/212140 1. The disease: Systemic primary carnitine deficiency (CDSP) is a disorder of the carnitine cycle...
CPT2 gene Also known as: CPT2; CPT2 deficiency; CPTII neonatal form; CPTII infantile severe form; CPTII myopathic form OMIM#600649 https://omim.org/entry/600649 1. The disease: Carnitine palmitoyltransferase II (CPT II) deficiency...
CPT1A gene Also known as: CPT1; CPT1A deficiency; L-CPT1 deficiency (OMIM#255120 https://omim.org/entry/255120) 1. The disease: Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism, which affects mitochondrial...
SLC25A20 gene Also known as: CACT deficiency (OMIM#212138 https://omim.org/entry/212138) 1. The disease: Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation, which usually presents in...
SLC52A2 and SLC52A3 gene Also known as: Brown-Vialetto-Van Laere syndrome 1; Brown-Vialetto-Van Laere syndrome 2; Riboflavin transporter deficiency 2 (RFVT2); Riboflavin transporter deficiency 3 (RFVT3); bulbar palsy, progressive, with...
BCKDK gene Also known as: Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency; BCKDK deficiency (BCKDKD). (OMIM#614923 https://omim.org/entry/614923) 1. The disease: A rare disorder of branched-chain amino...
#OMIM170390 – https://omim.org/entry/170390 Also known as: Andersen syndrome; Long QT syndrome; Andersen cardiodysrhythmic periodic paralysis; Periodic paralysis, potassium-sensitive cardiodysrhythmic type 1. The Disease: A rare disorder characterized by periodic...
#OMIM601005 – https://omim.org/entry/601005 Also known as: Long QT syndrome with syndactyly 1. The Disease: A rare, multiple congenital anomalies syndrome with cardiac involvement as a major feature characterized by...
#OMIM220400 – https://omim.org/entry/220400 Also known as: Congenital deafness and functional heart disease; Prolonged QT interval in EKG and sudden death; Cardioauditory syndrome of Jervell and Lange-Nielsen; Surdo-cardiac syndrome 1....