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• Imprinted Genes or Loci and Disease
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• Diseases of Amino Acid and Organic Acid Metabolism
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• Cystinuria
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• Hartnup Disorder
• Homocysteinemia / Homocystinuria
• Isovaleric Acidemia
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• Methylmalonic Acidemias/Acidurias
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• Propionic Acidemia
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• Diseases of Carbohydrate Metabolism
• Glycogen Storage Diseases
• Andersen Disease: Type 4 Glycogen Storage Disease
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• Pompe Disease: Type 2 Glycogen Storage Disease
• von Gierke Disease: Type 1 Glycogen Storage Disease
• Fructose Metabolism Disorders
• Galactose Metabolism Disorders
• Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency
• Pyruvate Kinase Deficiency: Erythrocyte
• GLUT1 Deficiency Syndrome, GLUT1DS
• Lafora Disease
• Pyruvate Carboxylase Deficiency
• Pyruvate Dehydrogenase Complex Deficiencies
• Diseases of Cholesterol and Lipoprotein Metabolism
• Familial Hypercholesterolemia (FH)
• Abetalipoproteinemia, ABL: MTTP mutations
• Familial Chylomicronemia Syndrome
• Familial Combined Hypolipidemia: ANGPTL3 mutations
• Familial Hypobetalipoproteinemia Syndrome, FHBL: APOB truncation mutations
• Familial Hypobetalipoproteinemia Syndrome, FHBL: PCSK9 loss-of-function mutations
• Familial LCAT Deficiency: FLD (Fish Eye Disease)
• Lipoprotein(a) and Atherogenesis
• Smith-Lemli-Opitz Syndrome, SLOS
• Tangier Disease: Familial High-Density Lipoprotein Deficiency
• Diseases of Hormone Synthesis or Function
• Addison Disease
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• Disorders of Fatty Acid Metabolism
• Carnitine Deficiency, Systemic Primary
• Carnitine Palmitoyltransferase 2 (CPT2) Deficiency
• Carnitine Palmitoyltransferase 1 (CPT1) Deficiency
• Fatty Acid Oxidation Disorders
• Lipid Storage Myopathies
• Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
• Short Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
• Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
• Disorders of Metal Transport and Metabolism
• Hemochromatosis
• Menkes Disease
• Wilson Disease
• Disorders of Mucopolysaccharide Metabolism
• Hunter Syndrome, MPS II
• Hurler and Scheie Syndromes
• Maroteaux-Lamy Syndrome, MPS VI
• Morquio Syndromes Type A and B (MPS IV)
• Sanfilippo Syndrome Types A, B, C, and D (MPS III)
• Sly Syndrome, MPS VII
• Disorders of Nucleotide Metabolism
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• Hyperuricemia and Gout
• Lesch-Nyhan Syndrome
• Severe Combined Immunodeficiency Disease, SCID
• Disorders of Oxidative Phosphorylation
• Disorders of Peroxisome Biogenesis and Function
• D-Bifunctional Protein Deficiency
• Refsum Disease
• Infantile Refsum Disease
• Neonatal Adrenoleukodystrophy, NALD
• Rhizomelic Chondrodysplasia Punctata, RCDP
• Zellweger Syndrome
• X-Linked Adrenoleukodystrophy, X-ALD
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• Urea Cycle Disorders
• Urea Cycle Disorders: Overview
• Arginase Deficiency
• Argininosuccinate Lyase (AL) Deficiency
• Argininosuccinate Synthetase (AS) Deficiency: Citrullinemia Type 1
• Carbamoyl Phosphate Synthetase 1 Deficiency (CPSD)
• Ornithine Transcarbamylase (OTC) Deficiency
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• Disorders of Glycoprotein and Glycolipid Degradation
• Aspartylglucosaminuria, AGU
• Fabry Disease
• Farber Lipogranulomatosis
• Fucosidosis
• Galactosialidosis (Goldberg Sydrome)
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• GM1 Gangliosidosis
• GM2 Activator Deficiency (Tay-Sachs AB Variant)
• I-Cell Disease, Mucolipidosis II
• Krabbe Disease
• Metachromatic Leukodystrophy, MLD
• Niemann-Pick Diseases
• Pseudo-Hurler Polydystrophy, Mucolipidosis III
• Sandhoff Disease
• Sialidosis
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• Alpha(α)-Mannosidosis
• Beta(β)-Mannosidosis
• Porphyrias and Bilirubinemias
• Acute Intermittent Porphyria, AIP
• ALA Dehydratase Deficient Porphyria, ADP
• Congenital Erythropoietic Porphyria, CEP
• Crigler-Najjar Syndromes
• Dubin-Johnson Syndrome
• Erythropoietic Protoporphyria, EPP
• Gilbert Syndrome
• Hereditary Coproporphyria, HCP
• Porphyria Cutanea Tarda, PCT
• Rotor Syndrome
• Variegate Porphyria, VP
• X-Linked Sideroblastic Anemia, XLSA
• Neuromuscular Disorders
• Becker Muscular Dystrophy, BMD
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• Spinal Muscular Atrophy, SMA
• Alpha Listing – Diseases And Disorders
• Recommended Newborn Screening Panel
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