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Summary
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) THMD5
ENCEPHALOPATHY, EPISODIC, DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCYENCEPHALOPATHY, EPISODIC, DUE TO THIAMINE PYROPHOS
614458
OMIM = Online Medalian Inheritance of Men
293955
7q35
very rare
autosomal recessive
mutation in the TPK1 gene
Leigh-like disease
symptoms
ataxia
developmental delay
dystonia
encephalopathy
gait disturbance
hypotonia
lactic acidosis
lethargy, drowsiness, malaise or sleep disorder
onset, childhood
seizures
speech development, delayed, abnormal
laboratory finding
MRI, brain, abnormalities -
Thiamine pyrophosphate normal-increasedurine
Thiamine pyrophosphate decreasedserum
L-Lactic acid increasedplasma
L-Lactic acid increasedcerebrospinal fluid
3-Hydroxyisovaleric acid normal-increasedurine
Literature
Reddy VS,Patole SK, Rao SRole of probiotics in short bowel syndrome in infants and children--a systematic reviewNutrients53679-6992013
Guan N,et al.Risk factors of melamine-contaminated milk powder related urolithiasis: a multicenter nested case-control studyBeijing Da Xue Xue Bao426690-6962010
Yang H,et al.Ultrasound of urinary system and urinary screening in 14 256 asymptomatic children in ChinaNephrology (Carlton)153362-3672010