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Summary
NEU-LAXOVA SYNDROME 2 NLS2 (PSAT)
616038
OMIM = Online Medalian Inheritance of Men
2671
9q21.2
rare
autosomal recessive
mutation in the PSAT1 gene
symptoms
cleft palate
craniofacial anomalies
dysmorphism
early death
fetal akinesia/hypokinesia sequence
hypertelorism
hypertonia, spasticity
ichthyosis
limb abnormalities, limb deformities
low set ears
microcephaly (<2 SD for age)
onset, fetus
onset, neonatal
seizures
small chin or micrognathia
small for gestational age (SGA), intrauterine growth retardation (IUGR)
laboratory finding
L-Serine decreasedplasma
L-Serine decreasedcerebrospinal fluid
MRI, brain, abnormalities -
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
Nogales-Gadea G,et al.Exercise and Preexercise Nutrition as Treatment for McArdle DiseaseMed Sci Sports Exerc484673-6792016
Keel BR,Brit MMcArdles disease: a clinical review and case reportTenn Med1061033-372013
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