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Summary
NEU-LAXOVA SYNDROME 1 NLS1
256520
OMIM = Online Medalian Inheritance of Men
2671
1p12
very rare
autosomal recessive
Serine biosynthesis defect, severe and lethal serine deficiency phenotype
symptoms
cardiac involvement, cardiac defects
cataract
cerebellar atrophy or hypoplasia
cleft lip
cleft palate
craniofacial anomalies
cryptorchism
early death
edema
fetal akinesia/hypokinesia sequence
hypertelorism
ichthyosis
lung hypoplasia
microcephaly (<2 SD for age)
microphthalmus
onset, fetus
onset, neonatal
polyhydramnion (maternal)
skeletal changes, skeletal abnormalities
small chin or micrognathia
small for gestational age (SGA), intrauterine growth retardation (IUGR)
syndactyly
ventricular septal defect
laboratory finding
L-Serine lowblood
Glycine lowblood
Literature
Yasuno T,et al.Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiencyBiochem Biophys Res Commun4482175-1812014
de Sain-van der Velden MG,et al.Differences between acylcarnitine profiles in plasma and bloodspotsMol Genet Metab1101116-1212013
Malik S,et al.Neonatal Carnitine Palmitoyltransferase II Deficiency: A Lethal EntityJ Clin Diagn Res910SD01-022015
Lehmann D,Zierz SNormal protein content but abnormally inhibited enzyme activity in muscle carnitine palmitoyltransferase II deficiencyJ Neurol Sci3391183-1882014