AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 (AUTSX6)

Question 1

What is  AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 (AUTSX6)?

Accepted Answer

X-linked recessive
mutation in the TMLHE gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 300872

Question 3

Which enzymes are involved?

Accepted Answer

Trimethyllysine dioxygenase, mitochondrial

Disease	AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 (AUTSX6)
Synonym	EPSILON-TRIMETHYLLYSINE HYDROXYLASE DEFICIENCY; TMLHED
OMIM	300872 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	Trimethyllysine dioxygenase, mitochondrial
Gene locus	Xq28
ICD
Summary	X-linked recessive mutation in the TMLHE gene
Laboratory findings	L-Carnitine normal/dec (plasma) Trimethyllysine inc (plasma)
Symptoms	behavior, autism or autistic-like developmental regression intellectual disability/intellectual developmental disorder onset, childhood speech development, delayed, abnormal