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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 COXPD32
617664
OMIM = Online Medalian Inheritance of Men
---
16p13.3
rare
autosomal recessive
mutation in the MRPS34 gene
symptoms
chorea or athetosis
coarse facial features
constipation
contractures, joints
defect of walking, running, rising or climbing
developmental delay
dystonia
early death
eye movements, abnormal
feeding difficulties, poor feeding
hyperreflexia
hypotonia
lactic acidosis
Leigh syndrome
microcephaly (<2 SD for age)
nystagmus
onset, infancy
optic atrophy
ptosis (drooping eyelid)
speech development, delayed, abnormal
strabismus
laboratory finding
Lactic acid increasedserum
Lactic acid increasedcerebrospinal fluid
Literature
Zubarioglu T,et al.Clinical and neuroradiological approach to fucosidosis in a child with atypical presentationAnn Indian Acad Neurol184471-4742015
Gautschi M,et al.Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skinEur J Paediatr Neurol184516-5192014