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Summary
LIPOYLTRANSFERASE 2 DEFICIENCY (LIPT2D) NELABA
NELABA ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES
617668
OMIM = Online Medalian Inheritance of Men
447795
11q13.4
rare
autosomal recessive
mutation in the LIPT2 gene
symptoms
cerebral atrophy
encephalopathy
feeding difficulties, poor feeding
hypotonia
lactic acidosis
microcephaly (<2 SD for age)
myelination, incomplete, hypomyelination
onset, neonatal
paraparesis/paraplegia
respiratory insufficiency
seizures
laboratory finding
L-Lactic acid increasedserum
MRI, brain, abnormalities -
Alanine increasedserum
Pyruvic acid increasedserum
Glycine increasedserum
2-Ketoglutarate increasedurine
Literature
Bak M,et al.Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57BMC Med Genet17292016
Fawaz R,et al.Guideline for the Evaluation of Cholestatic Jaundice in Infants: Joint Recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN) and the European Society for Pediatric Gastroenterology, Hepatology,J Pediatr Gastroenterol NutrJ Pediatr Gastroenterol Nutr641154-1682017
Chen P,et al.SLC30A10: A novel manganese transporterWorm432016