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Summary
BRANCHED-CHAIN AMINOTRANSFERASE 2 (BCAT2)
BCAT2
113350
OMIM = Online Medalian Inheritance of Men
---
19q13.33
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].
symptoms
behavior, autism or autistic-like
developmental delay
failure to thrive
feeding difficulties, poor feeding
headache (severe, recurrent or occipital, migraine)
no consistent clinical signs or symptoms
onset, childhood
onset, infancy
onset, neonatal
psychomotor retardation
vomiting
laboratory finding
L-Isoleucine -Ámol/lplasma
Leucine -Ámol/lplasma
Valine -Ámol/lplasma
Arginine -Ámol/lplasma
Glycine -Ámol/lplasma
Literature
Nagamani SCS,Erez A, Lee BArgininosuccinate Lyase DeficiencyGeneReviews-« Internet002012
Mauvais FX,et al.Cholestasis Reveals Severe Cortisol Deficiency in Neonatal Pituitary Stalk Interruption SyndromePLoS One112e01477502016
Voutetakis A,Sertedaki A, Dacou-Voutetakis CPituitary stalk interruption syndrome: cause, clinical manifestations, diagnosis, and managementCurr Opin Pediatr284545-5502016