He keeps a Buy rating on Acer shares, noting that its cash runway "remains relatively lengthy" and he expects Acer to now pivot to clinical development of ACER-001, a taste-masked, immediate-release formulation of sodium phenylbutyrate for treatment of urea cycle disorders and maple syrup urine disease
Based on indication, the global market for amino acid metabolism disorder treatment has been classified into phenylketonuria, maple syrup urine disease
, argininosuccinic acidemia, citrullinemia, and homocystinuria.
Currently, classic maple syrup urine disease
(MSUD) can still cause severe neurologic disorders and sudden death despite advances in developing medical nutritional therapies (1).
Enzyme defects indicated by solid bars are numbered as follows: (1), branched-chain 2-ketoacid dehydrogenase complex deficiency (MSUD, maple syrup urine disease
); (2), isovaleryl-CoA dehydrogenase deficiency (isovaleric acidemia); (3), isolated 3-methylcrotonyl-CoA carboxylase deficiency; (4), 3-methylcrotonyl-CoA carboxylase deficiency as part of a multiple carboxylase deficiency due to nutritional biotin deficiency or biotinidase deficiency or holocarboxylase synthetase deficiency or carbonic anhydrase VA deficiency or MT-ATP6 deficiency; (5), 3-methylglutaconyl-CoA hydratase deficiency; (6), 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency.
Maple Syrup Urine disease
(MSUD) is caused by the deficiency of the branched chain 2-ketoacid dehydrogenase (BCKD) complex, the second common step in the catabolism of the three branched chain amino acids (BCAA), leucine, isoleucine and valine.
Typical examples include phenylketonuria (PKU), maple syrup urine disease
(MSUD), or classical homocystinuria (HCU, cystathionine-[beta]-synthase deficiency).
We aimed to evaluate the magnetic resonance imaging (MRI) and clinical features of maple syrup urine disease
Maple syrup urine disease
(MSUD; OMIM# 248600) is an autosomal recessive inborn error of metabolism, which can be managed by specific dietary modifications of branched chain amino acid intake.
Maple syrup urine disease
(MSUD) is an autosomal recessive inherited metabolic disease caused by decreased enzyme activity of branched-chain alpha-ketoacid dehydrogenase complex (BCKDC), responsible for catabolism of leucine (leu), valine (val), and isoleucine (isoleu).
Urine GC-MS (Gas chromatography - mass spectrometry) was done, which confirmed the diagnosis as Maple Syrup Urine Disease
. Urine GC--MS showed elevation of MSUD metabolites (2-OH isovaleric, 2-Ketoisovaleric OX-2, 2-OH-3-methylvaleric2, 2-keto-3 methylvaleric OX-2, 2-ketoisocaproic OX-2).
Acer said it also intends to use the financing to support manufacturing and clinical development of ACER-001, a proprietary taste-masked, immediate-release formulation of sodium phenylbutyrate (NaPBA) for Maple Syrup Urine Disease
(MSUD) and Urea Cycle Disorder (UCD), serious genetic diseases which impact amino acid and ammonia metabolism, respectively.
Newborn screening includes a blood test, hearing screening and screening for critical congenital heart defects they are conducted to diagnose disorders such as newborn hearing loss, cystic fibrosis, maple syrup urine disease
, congenital hypothyroidism, critical congenital heart disease, sickle cell disease and congenital adrenal hyperplasia.