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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 COXPD5
611719
OMIM = Online Medalian Inheritance of Men
137908
3q23
rare
autosomal recessive
mutation in the MRPS22 gene
hypertrophic cardiomyopathy and tubulopathy may not be considered as constant features of MRPS22 [Kilic M et al. 2017]
symptoms
ascites
cardiomyopathy
cardiomyopathy, hypertrophic
developmental delay
dysmorphism
early death
growth retardation
hypotonia
lactic acidosis
leukoencephalopathy
low set ears
metabolic acidosis
microcephaly (<2 SD for age)
onset, neonatal
seizures
skin rash, eczematous or seborrhoic
spastic diplegia/quadriplegia
tubulopathy
laboratory finding
Ammonia increasedserum
L-Lactic acid increasedserum
Literature
Lee BJ,et al.Physical therapy-induced rhabdomyolysis and acute kidney injury associated with reduced activity of muscle lactate dehydrogenase AArthritis Care Res (Hoboken)63121782-17862011
Ito T,et al.Pustular psoriasis-like lesions associated with hereditary lactate dehydrogenase M subunit deficiency without interleukin-36 receptor antagonist mutation: long-term follow-up of two casesBr J Dermatol17261674-16762015
Lai CJ,et al.Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement TherapyJ Child Neurol3141617-16212016