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Summary
LEUKOTRIENE C4-SYNTHESIS DEFICIENCY
LTC4S
614037
OMIM = Online Medalian Inheritance of Men
79507
5q35.3
very rare
autosomal recessive
symptoms
decreased spontaneous movements
dysmorphism
early death
encephalopathy
failure to thrive
hypotonia
mental retardation
microcephaly (<2 SD for age)
motor retardation
onset, infancy
poor or absent head control
progressive neurologic defect
psychomotor retardation
laboratory finding
Cysteinyl leukotrienes (LTB4) normal-increasedplasma
Cysteinyl leukotrienes (LTC4) decreasedplasma
Cysteinyl leukotrienes (LTC4) decreasedcerebrospinal fluid
EEG abnormalities -
EMG abnormalities -
Cysteinyl leukotrienes (LTB4) normal-increasedcerebrospinal fluid
Cysteinyl leukotrienes (LTD4) nmol/lcerebrospinal fluid
Cysteinyl leukotrienes (LTE4) decreasedcerebrospinal fluid
Cysteinyl leukotrienes (LTD4) nmol/lplasma
Cysteinyl leukotrienes (LTE4) decreasedplasma
Cysteinyl leukotrienes (LTE4) decreasedurine
Literature
Marcadier JL,et al.Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduriaOrphanet J Rare Dis80982013
Stibler HWesterberg B, Hanefeld F, Hagberg BCarbohydrate-deficient glycoprotein (CDG) syndrome - a new variant, type IIINeuropediatrics24151-521993
Clayton BEJenkins P, Round JMPaediatric chemical pathology - clinical tests and reference rangesBlackwell, Oxford001980
Mayatepek ELehmann WDGest+Ârter Abbau von 12- und 15-Hydroxyeikosatetraens+ñure (HETE) bei Patienten mit peroxisomaler Stoffwechselerkrankung10. Jahrestagung der APS in Fulda8.-10.2.96001996
Anderson KEThe porphyriasPhysicians guide to the laboratory diagnosis of metabolic diseases Chapman & Hall, London00437-4511996
Song X,et al.Neuropathology of 3-hydroxyisobutyric aciduria, an autopsy case reportCan J Neurol Sci364483-4862009
Wanders RJA,et al.3-HYDROXYISOBUTYRIC ACID DEHYDROGENASE DEFICIENCY: IDENTIFICATION OF A NEW INBOR ERROR OF VALINE METABOLISMJ Inherit Metab Dis (SSIEM 2012 Birmingham)351S12012