Victoria Jenkins, PhD

New Term Request: Hypervalinemia and hyperleucine-isoleucinemia

2

I'd like to request a term for hypervalinemia and hyperleucine-isoleucinemia. This is the first of several terms I am requesting from the first paper cited below on amino acid metabolism...

New Term Request: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities

1

I'd like to request a term for neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities. OMIM: https://www.omim.org/entry/619121 Potential definition: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities has_material_basis_in homozygous or...

New Term Request: Glutamine deficiency, congenital

1

I'd like to request a term for glutamine deficiency, congenital (this is what OMIM uses but less awkward terms are available, see below). Whether this should be two separate diseases...

New Term Request: Neurodevelopmental disorder with microcephaly and spastic paraplegia

1

I'd like to request a term for neurodevelopmental disorder with microcephaly and spastic paraplegia. OMIM: https://www.omim.org/entry/616281 Potential definition: Neurodevelopmental disorder with microcephaly and spastic paraplegia has_material_basis_in homozygous or compound heterozygous...

New Term Request: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

1

I'd like to request a term for 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. OMIM: https://www.omim.org/entry/246450 Potential definition: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36....

New Term Request: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

1

I'd like to request a term for mitochondrial short-chain enoyl-CoA hydratase 1 deficiency. OMIM: https://www.omim.org/entry/616277 Potential definition: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency has_material_basis_in homozygous or compound heterozygous mutation in...