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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 COXPD15
614947
OMIM = Online Medalian Inheritance of Men
319524
15q22.31
rare
autosomal recessive
mutation in the MTFMT gene
symptoms
ataxia
developmental delay
gait disturbance
heart involvement
lactic acidosis
microcephaly (<2 SD for age)
nystagmus
obesity
onset, childhood
optic atrophy
seizures
short stature
speech development, delayed, abnormal
strabismus
tremor or twitching
laboratory finding
Lactic acid mmol/lcerebrospinal fluid
Lactic acid1.005.00 mmol/lplasma
MRI, brain, abnormalities -
Literature
Aguisanda F,Thorne N, Zheng W1.Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic DevelopmentCurr Chem Genom Transl Med1101-182017
Wierzbicka-Rucinska A,et al.Diagnostic and therapeutic management of children with lysosomal acid lipase deficiency (LAL-D). Review of the literature and own experienceDev Period Med203212-2152016
Michot C,et al.LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhoodHum Mutat317E1564-15732010
Stiles AR,et al.New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic AciduriaJIMD Rep25015-192016
Michot C,et al.Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgiaJ Inherit Metab Dis3561119-11282012