(A) Mitochondrial Conditions:
(i) Kearn Sayers Syndrome;
(ii) Mitochondrial Encephalopathy Ragged Red Fiber;
(iii) Mitochondrial Encephalopathy Lactic Acidosis Stroke;
(iv) Neuropathy, Ataxia, and Retinitis Pigmentosa;
(v) Mitochondrial neurogastrointestinal encephalopathy;
(vi) Polymerase G Related Disorders:
(I) Alpers-Huttenlocher syndrome;
(II) Childhood Myocerebrohepatopathy spectrum;
(III) Myoclonic epilepsy myopathy sensory ataxia; and
(IV) Ataxia neuropathy spectrum;
(vii) Subacute necrotizing encephalopathy, also known as Leigh syndrome;
(viii) Respiratory chain disorders complex 1 through 4 defects: Co Q biosynthesis defects;
(x) Mitochondrial Depletion syndromes types 1 through 14:
(I) Deoxyguanisine kinase deficiency;
(II) SUCLG1-related mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; and
(III) RRM2B-related mitochondrial disease.
(B) Creatine Disorders:
(i) Guanidinoacetate methytransferase deficiency;
(ii) L-Arginine/glycine amidinotransferase deficiency; and
(iii) Creatine Transporter Defect, also known as SLC 6A8.
(C) Neurotransmitter defects:
(i) Segawa Diease, also known as Dopamine Responsive Dystonia;
(ii) Guanosine triphosphate cyclohydrolase deficiency;
(iii) Aromatic L-amino acid decarboxylase deficiency;
(iv) Monoamine oxidase deficiency;
(v) Biopterin Defects:
(I) Pyruvoyl-tetahydropterin synthase;
(II) Sepiapterin reductase;
(III) Dihydropteridine reductase; and
(IV) Pterin-4-carbinolamine dehydratase.
(D) Congenital Disorders of Glycosylation.
(E) Lysosomal Storage Diseases:
(i) Mucopolysaccaridosis:
(I) Mucopolysaccharidosis Type I, also known as Hurler Syndrome or Scheie Syndrome;
(II) Mucopolysaccharidosis Type II, also known as Hunter Syndrome;
(III) Mucopolysaccharidosis Type III, also known as Sanfilippo A and B;
(IV) Mucopolysaccharidosis Type IV, also known as Maroteaux-Lamy; and
(V) Mucopolysaccharidosis Type VII, also known as Sly.
(ii) Oligosaccharidoses:
(IV) Asparylglucosaminuria;
(iii) Mucolipidoses:
(I) Mucolipidoses Type II, also known as Inclusion Cell disease; and
(II) Mucolipidoses Type III, also known as pseudo-Hurler polydystrophy;
(iv) Sphingolipidoses:
(I) Gaucher Type 2 and Type 3;
(II) Neimann Pick Type A and B;
(III) Neimann Pick Type C;
(VI) GM2 gangliosidosis also known as Tay-sachs and Sandhoff Disease;
(VII) Metachromatic leukodystrophy;
(VIII) Neuronal ceroid lipofuscinosis types 1-10 including Batten Disease; and
(v) Glycogen Storage-Lysosomal: Pompe Disease.
(F) Peroxisomal Disorders:
(i) X-linked adrenoleukodystrophy;
(ii) Peroxisomal biosynthesis defects:
(II) Neonatal Adrenoleukodystrophy; and
(iii) D Bidirectional enzyme deficiency.
(G) Leukodystrophy:
(ii) Pelizaeus-Merzbacher disease;
(iv) Multiple Sulfatase deficiency;
(vi) Glycine encephalopathy, also known as non-ketotic hyperglycinemia;
(vii) Maple Syrup Urine Disease;
(viii) Homocysteine re-methylation defects;
(ix) Methylenetetrahydrofolate reductase deficiency severe variant;
(x) L-2-hydroxyglutaric aciduria;
(xi) Glutaric acidemia type 1;
(xii) 3-hydroxy-3-methylglutaryl-CoA lyase deficiency;
(xiv) Manosidosis alpha and beta;
(xvi) Peripheral neuropathy types 1 through 4;
(xvii) Pyruvate Dehydrogenase Deficiency;
(xviii) Pyruvate Carboxylase Deficiency;
(xix) Refsum Disease; and
(xx) Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy.
(H) Fatty Acid Oxidation:
(i) Trifunctional protein deficiency; and
(ii) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency.
(I) Metal Metabolism:
(ii) Pantothenate Kinase Associated Neurodegeneration; and
(iii) Neurodegeneration with brain iron accumulation.
(J) Purine and Pyrimidine Defects:
(i) Adenylosuccinate synthase Deficiency;
(ii) 5-aminoimidazole-4-carboxamide ribonucleotide transformylase deficiency;
(iii) Hypoxanthine-guanine phosophoribosyltransferase Deficiency also known as Lesch-Nyhan disease;
(iv) Dihydropyrimidine dehydrogenase Deficiency; and
(v) Dihydropirimidinase Deficiency.