LIPOYLTRANSFERASE 2 DEFICIENCY (LIPT2D); NELABA

Question 1

What is  LIPOYLTRANSFERASE 2 DEFICIENCY (LIPT2D); NELABA?

Accepted Answer

rare
autosomal recessive
mutation in the LIPT2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Lipoyl-Transferase 2-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 617668

Question 4

Which enzymes are involved?

Accepted Answer

Lipoyl(Octanoyl) Transferase 2

Disease	LIPOYLTRANSFERASE 2 DEFICIENCY (LIPT2D); NELABA
Synonym	NELABA; ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES;
OMIM	617668 OMIM = Online Mendelian Inheritance of Men
Orphanet	447795
Gene locus	11q13.4
ICD	E88.8
Summary	rare autosomal recessive mutation in the LIPT2 gene
Laboratory findings	Alanine inc (serum) Glycine inc (serum) L-Lactic acid inc (plasma) Pyruvic acid inc (serum) Sedoheptulose-7-phosphate inc (urine)
Symptoms	cerebral atrophy encephalopathy feeding difficulties, poor feeding hypotonia lactic acidosis microcephaly (<2 SD for age) MRI, brain, abnormalities [-] myelination, incomplete, hypomyelination onset, neonatal paraparesis/paraplegia paresis respiratory insufficiency seizures