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Summary
NEU-LAXOVA SYNDROME 1 NLS1 (PHGDH)
256520
OMIM = Online Medalian Inheritance of Men
2671
1p12
very rare
autosomal recessive
homozygous mutation in the PHGDH gene
Serine biosynthesis defect, severe and lethal serine deficiency phenotype
symptoms
anemia
cardiac involvement, cardiac defects
cataract
cerebellar atrophy or hypoplasia
cleft lip
cleft palate
craniofacial anomalies
cryptorchism
dysmorphism
early death
edema
fetal akinesia/hypokinesia sequence
hypertelorism
ichthyosis
lung hypoplasia
microcephaly (<2 SD for age)
microphthalmus
onset, fetus
onset, neonatal
polyhydramnion (maternal)
seizures
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 lowplasma
Glycine lowplasma
L-Serine decreasedcerebrospinal fluid
Glycine decreasedcerebrospinal fluid
MRI, brain, abnormalities -
EEG abnormalities -
Literature
Yasuno T,et al.Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiencyBiochem Biophys Res Commun4482175-1812014
Mathieu C,Dupret JM, Rodrigues Lima FThe structure of brain glycogen phosphorylase-from allosteric regulation mechanisms to clinical perspectivesFEBS J2844546-5542017
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
Quinlivan R,Martinuzzi A, Schoser B.Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V)Cochrane Database Syst Rev2202014
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
Nogales-Gadea G,et al.McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.Hum Mutat367669-6782015