LIPOYLTRANSFERASE 1 DEFICIENCY (LIPT1D)

Question 1

What is  LIPOYLTRANSFERASE 1 DEFICIENCY (LIPT1D)?

Accepted Answer

rare
autosomal recessive
mutation in the LIPT1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Lipoyl-Transferase 1-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 616299

Question 4

Which enzymes are involved?

Accepted Answer

Lipoyltransferase 1, mitochondrial

Disease	LIPOYLTRANSFERASE 1 DEFICIENCY (LIPT1D)
OMIM	616299 OMIM = Online Mendelian Inheritance of Men
Orphanet	401862
Protein (UniProt)	Lipoyltransferase 1, mitochondrial
Gene locus	2q11.2
ICD	E88.8
Summary	rare autosomal recessive mutation in the LIPT1 gene
Laboratory findings	Alanine inc (serum) Glutamine inc (serum) L-Lactic acid inc (plasma) Proline inc (serum) Sedoheptulose-7-phosphate inc (urine)
Symptoms	bradycardia cerebellar atrophy or hypoplasia dystonia early death extrapyramidal signs lactic acidosis liver involvement or dysfunction myelination, incomplete, hypomyelination onset, infancy paraparesis/paraplegia paresis psychomotor retardation pulmonary hypertension