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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 COXPD35
617873
OMIM = Online Medalian Inheritance of Men
1p34.2
very rare
autosonmal recessive
mutation in the TRIT1 gene
symptoms
cerebral atrophy
congenital heart defect
developmental delay
dystonia
encephalopathy
failure to thrive
hypertonia, spasticity
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
microcephaly (<2 SD for age)
myopia
onset, infancy
seizures
speech development, delayed, abnormal
laboratory finding
EEG abnormalities -
MRI, brain, abnormalities -
Literature
Opladen T,et al.Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemiaMov Disord261157-1612011
Pan L,et al.GTP-cyclohydrolase deficiency responsive to sapropterin and 5-HTP supplementation: relief of treatment-refractory depression and suicidal behaviourBMJ Case Rep201102011
Sato H,et al.Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutationBrain Dev363268-2712014