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Summary
LIPOYLTRANSFERASE 1 DEFICIENCY (LIPT1D)
616299
OMIM = Online Medalian Inheritance of Men
401862
2q11.2
rare
autosomal recessive
mutation in the LIPT1 gene
symptoms
bradycardia
cerebellar atrophy or hypoplasia
dystonia
early death
extrapyramidal signs
lactic acidosis
liver involvement or dysfunction
myelination, incomplete, hypomyelination
onset, infancy
paraparesis/paraplegia
psychomotor retardation
pulmonary hypertension
laboratory finding
L-Lactic acid increasedserum
Sedoheptulose-7-phosphate increasedurine
L-Glutamine increasedserum
Proline increasedserum
Alanine increasedserum
Literature
Chen P,et al.SLC30A10: A novel manganese transporterWorm432016
Quadri M,et al.Manganese transport disorder: novel SLC30A10 mutations and early phenotypesMov Disord307996-10012015
Goetze T,et al.Neonatal Cholestasis - Differential Diagnoses, Current Diagnostic Procedures, and TreatmentFront Pediatr3432015