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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 COXPD18
615578
OMIM = Online Medalian Inheritance of Men
391348
10q26.11
rare
autosomal recessive
mutation in the SFXN4 gene
symptoms
anemia
blindness, visual loss, visual impairment
growth retardation, poor growth
hyperammonemia
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
intrauterine growth retardation
lactic acidosis
muscle atrophy
onset, infancy
onset, neonatal
tremor or twitching
laboratory finding
Lactic acid3.00 mmol/lplasma
Ammonia +€mol/lblood
Literature
Maas RPPWM,et al.l-Dopa in dystonia: A modern perspectiveNeurology88191865-18712017