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Summary
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (CDG)
GMPPA-CDG
615510
OMIM = Online Medalian Inheritance of Men
2q35
rare
autosomal recessive
symptoms
achalasia
alacrima
autonomic dysfunction
dysphagia
feeding difficulties, poor feeding
hearing defect, deafness
hyperkeratosis
hypotonia
mental retardation
nystagmus
onset, neonatal
psychomotor retardation
strabismus
laboratory finding
IEF of serum transferrin normalserum
Literature
Tsuburaya Ret al.Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase capital I, Ukrainian (CPT I) deficiency detected by tandem mass spectrometry newborn screening in JapanBrain Dev002009
Meir Ket al.SEVERE INFANTILE CARNITINE PALMITOYLTRANSFERASE II (CPT II) DEFICIENCY IN 19-WEEK FETAL SIBSPediatr Dev Pathol002009