LEUKOTRIENE C4-SYNTHESIS DEFICIENCY

Question 1

What is  LEUKOTRIENE C4-SYNTHESIS DEFICIENCY?

Accepted Answer

very rare
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hypotonie - Gedeihstörungen - Mikrozephalie; Leukotrien-C4 (LTC4)-Synthase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614037

Question 4

Which enzymes are involved?

Accepted Answer

Leukotriene C4 synthase

Disease	LEUKOTRIENE C4-SYNTHESIS DEFICIENCY
Synonym	LTC4S
OMIM	614037 OMIM = Online Mendelian Inheritance of Men
Orphanet	79507
ExPASy	4.4.1.20
Gene locus	5q35.3
ICD
Summary	very rare autosomal recessive
Laboratory findings	Cysteinyl leukotrienes (LTB4) normal/inc (cerebrospinal fluid) Cysteinyl leukotrienes (LTB4) normal/inc (plasma) Cysteinyl leukotrienes (LTC4) dec (plasma) Cysteinyl leukotrienes (LTC4) dec (cerebrospinal fluid) Cysteinyl leukotrienes (LTD4) decreased (plasma) Cysteinyl leukotrienes (LTD4) decreased (cerebrospinal fluid) Cysteinyl leukotrienes (LTE4) dec (urine) Cysteinyl leukotrienes (LTE4) dec (plasma) Cysteinyl leukotrienes (LTE4) dec (cerebrospinal fluid)
Symptoms	decreased spontaneous movements dysmorphism early death EEG abnormalities [-] EMG abnormalities [-] 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