BRANCHED-CHAIN AMINOTRANSFERASE 2 (BCAT2)

Question 1

What is  BRANCHED-CHAIN AMINOTRANSFERASE 2 (BCAT2)?

Accepted Answer

very rare

autosomal recessive

At present, it is unclear whether developmental delay and autism are
parts of the variable phenotypic spectrum of this condition or
coincidental [Knerr 2019].

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 113530

Question 3

Which enzymes are involved?

Accepted Answer

Branched-chain aminotransferase

Disease	BRANCHED-CHAIN AMINOTRANSFERASE 2 (BCAT2)
Synonym	BCAT2
OMIM	113530 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
ExPASy	---
Gene locus	19q13.33
ICD	---
Summary	very rare autosomal recessive At present, it is unclear whether developmental delay and autism are parts of the variable phenotypic spectrum of this condition or coincidental [Knerr 2019].
Laboratory findings	Arginine normal/inc (plasma) Glycine normal/inc (plasma) L-Isoleucine inc (plasma) Leucine inc (plasma) Valine inc (plasma)
Symptoms	behavior, autism or autistic-like developmental delay failure to thrive feeding difficulties, poor feeding headache (severe, recurrent or occipital, migraine) no clinical symptoms (probably) onset, childhood onset, infancy onset, neonatal psychomotor retardation vomiting