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Summary
SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS (SDDHD, TKT)
TRANSKETOLASE DEFICIENCY
617044
OMIM = Online Medalian Inheritance of Men
418688
rare
autosomal recessive
mutation in the TKT gene
symptoms
behavior, self-mutilating or destructive
cataract
congenital heart defect
developmental delay
diarrhea
dysmorphism
hearing defect, deafness
onset, childhood
onset, infancy
onset, neonatal
short stature
speech development, delayed, abnormal
strabismus
uveitis
laboratory finding
Erythritol mmol/mol creatinineurine
D-Arabitol mmol/mol creatinineurine
Ribitol mmol/mol creatinineurine
Erythritol28.0060.00 +€mol/lplasma
D-Arabitol18.00111.00 +€mol/lplasma
Ribitol13.0080.00 +€mol/lplasma
Myo-inositol17.0019.00 +€mol/lplasma
Literature
Jackson CB,et al.A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathyEur J Med Genet606345-3512017