Metabolic disorders

2-aminoadipic 2-oxoadipic aciduria

2p21 microdeletion syndrome

3-Methylcrotonyl-CoA carboxylase deficiency

3-Methylglutaconic aciduria

Abetalipoproteinemia

Acute Recurrent Myoglobinuria

Alkaptonuria

Argininosuccinic aciduria

Aromatic L-amino acid decarboxylase deficiency

Aspartylglycosaminuria

Biotinidase deficiency

Butyrylcholinesterase deficiency

Carbamoylphosphate synthetase I deficiency

Carnitine deficiency

Carnitine Palmitoyltransferase deficiency

CDG alpha-mannosidase 1b1 deficiency

Cerebral creatine deficiency syndrome

Cholestasis

Combined malonic and methylmalonic aciduria

Congenital disorder of glycosylation

Diabetes mellitus

Dihydrolipoamide dehydrogenase deficiency

Dopamine beta-hydroxylase deficiency

Dystonia, dopamine responsive

Enolase deficiency

Epilepsy, pyridoxine-dependent

Extraoral halitosis

Fabry disease

Fructose intolerance

Fructose-1,6-bisphosphatase deficiency

Galactose epimerase deficiency

Galactosemia

Glyceraldehyde-3-phosphate dehydrogenase deficiency

Glycine N-methyltransferase deficiency

Glycogen storage disease

Glycogen storage disease

HDL deficiency

Hemolytic Anemia

Homocystinuria

Hyperhomocysteinemia

Hyperoxaluria

Hyperphenylalaninemia

Hyperprolinemia

Infantile neuroaxonal dystrophy

Infantile parkinsonism-dystonia

Infantile-onset multisystem neurologic, endocrine, and pancreatic disease

Intrinsic factor deficiency

Isovaleric acidemia

Lactase deficiency, congenital

Late-Onset Retinal Degeneration (L-ORD)

Lesch–Nyhan syndrome

Malate dehydrogenase deficiency

Maple Syrup Urine Disease

Medium chain Acyl-CoA Dehydrogenase deficiency

Megaloblastic anemia-1

Metabolic disorders (WES)

Methylmalonic aciduria and homocystinuria

Methylmalonic aciduria, vitamin B12 unresponsive

Molybdenum cofactor deficiency

Myasthenic syndrome

Myofosforylase deficiency

N-acetylglutamate synthase deficiency

Niemann-Pick disease

Ornithine transcarbamylase deficiency

Orotic aciduria

Perrault syndrome

Phenylketonuria

Phosphatidylethanolamine N-methyltransferase deficiency

Phosphoglycerate kinase 1 deficiency

Phosphoglycerate mutase 1 deficiency

Propionic acidemia

Pyridoxamine 5'-phosphate oxidase deficiency

Pyruvate kinase deficiency

Retinitis Pigmentosa, autosomal recessive

Short chain Acyl-CoA dehydrogenase deficiency

Sialidosis

Sitosterolemia

Smith-Lemli-Opitz syndrome

STING-associated vasculopathy, infantile-onset

Succinyl CoA3-oxoacid CoA transferase deficiency

Tangier disease

Tay Sachs disease

Testis-Derived Transcript

Thiamine metabolism dysfunction syndrome

Trimethylaminuria

Very Long-Chain Acyl-CoA Dehydrogenase deficiency