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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
dysmorphism
early death
encephalopathy
failure to thrive
hypotonia
mental retardation
microcephaly
motor retardation
onset, infant
progressive neurologic defect
psychomotor retardation
laboratory finding
Cysteinyl leukotrienes (LTC4, LTD4, LTE4)0.000.00 decreasedurineno data
Cysteinyl leukotrienes (LTC4, LTD4, LTE4) decreasedplasma
Cysteinyl leukotrienes (LTC4, LTD4, LTE4) decreasedspinal fluid
Literature
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