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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) decreasedcerebrospinal fluid
Cysteinyl leukotrienes (LTE4) decreasedcerebrospinal fluid
Cysteinyl leukotrienes (LTD4) decreasedplasma
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