Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency)
Acute Myeloid Leukemia
Acute Mylogenous Leukemia
Addison's Disease
Adenine phosphoribosyltransferase deficiency
Adenosine deaminase deficiency
Adenylate kinase (AK) deficiency
Adenylosuccinate lyase deficiency
Adrenal Cancer
AICA-Ribosiduria
AIDS
Alcoholism
Aldosterone biosynthesis defects
Aldosterone synthase deficiency
Alpha-ketoglutarate dehydrogenase deficiency (2-Ketoglutarate dehydrogenase complex deficiency)
Alzheimers Dementia
Alzheimers Disease
Aminoacylase 1 deficiency
Anemia due to disorder of glutathione metabolism
Anophthalmia and microphthalmia
Anorexia nervosa
Anoxia
Apparent mineralocorticoid excess syndrome
Argininema
Argininosuccinate lyase deficiency/Argininosuccinic aciduria
Argininosuccinic aciduria (ARGINSA)/Argininosuccinate lyase deficiency
Argininosuccinic aciduria (ARGINSA); Argininosuccinate lyase deficiency
Aromatase excess syndrome
Aromatic L-amino acid decarboxylase (AADC) deficiency
Asthma
Ataxia
Autoimmune Progesterone Dermatitis
Autosomal dominant polycystic kidney disease
Benign gynecological diseases
Beta-ureidopropionase deficiency
Biotinidase deficiency
Bipolar Disorder
Bisphosphoglycerate mutase deficiency
Breast Cancer
Brunner syndrome, MAOA deficiency
Cadmium exposure
Canavan Disease
Cancer
Carbamoyl Phosphate Synthetase Deficiency
Cardiovascular Disease
Carnitine palmitoyltransferase 2 deficiency
Carnitine-acylcarnitine translocase deficiency
Carnosinuria
Centronuclear myopathy
cerebral palsy
Cerebral vasospasm
Cerebrotendinous Xanthomatosis
Cholelithiasis
Cholestatic liver disease
Chronic kidney disease
Chronic renal failure
Cirrhosis
Citrullinemia type I (CTLN1)
CK syndrome (CKS)
Coenzyme Q10 deficiency
Combined deficiency of 5 K-dependent clotting factors (VKCFD)
Complex II deficiency
Congenital adrenal hyperplasia (CAH)
Congenital Bile Acid Synthesis Defect
Congenital disorder of glycosylation / 1-deficient glyco4 syndromes
Congenital disorder of glycosylation / carbohydrate-deficient glycoprotein syndromes
Congenital Haemodisplasia with Ichthyosis form Navous and Limb Defect
Congenital lactase deficiency
Congenital systemic glutamine deficiency (CSGD) Glutamine synthetase deficiency
Coronary heart disease
Cortisone reductase deficiency (CRD)
Coumarin Resistance/Warfarin Resistance
Creatine deficiency syndrome (Arginine:glycine amidinotransferase deficiency (AGAT deficiency)
Crigler-Najjar Syndrome/Hyperbilirubinemia
Cushing's Syndrome
Cystathioninuria
Cystinuria
D-2-hydroxyglutaric aciduria
D-Glyceric acidemia
D-Glyceric acidemia Primary hyperoxaluria
D-Glycerol 1-phosphate
Dementia
Depersonalization disorder
Desbuquois syndrome
Diabetes mellitus type 1
Diabetes mellitus type 2
Diabetes mellitus type 3
Diabetes mellitus type 4
Diaphyseal dysplasia with anemia (Ghosal)
dicarboxylic aminoaciduria
Dihydrofolate reductase (DHFR) deficiency
Dihydropyrimidinase deficiency
Dihydropyrimidine dehydrogenase deficiency
Eczema
Endometrial cancer
Epilepsy
Esophageal Cancer
Fabry disease
Fabry Disease
Familial Hypercholesterolemia
Familial hyperinsulinemic hypoglycemia (HHF)
Fanconi syndrome
Farber lipogranulomatosis
Febrile seizures
Fleck corneal dystrophy (FCD)
Folate deficiency
Formiminotransferase deficiency
Fructose 1,6 bisphosphatase deficiency
Fructose-1-6- bis phosphate Aldolase B deficiency or Fructosemia or Hereditary Fructose Intolerance
Fumarase Deficency
Gaba-transaminase deficiency
Galactose-1-phosphate uridyltransferase deficiency (Galactosemia)
Galactosemia
Galactosialidosis
Gaucher Disease (Glucocerebrosidase Deficiency, Glucosylceramidase Deficiency)
GBA associated Parkinson's Disease
Gestational diabetes
Gilbert syndrome/ Hyperbilirubinemia
Gilbert syndrome/ Hyperbilirubinemia 1
Glucocorticoid-remediable aldosteronism (GRA)
Glucose phosphate isomerase (GPI) deficiency
Glutamine synthetase deficiency
Glutaric aciduria type 1
Glutaric aciduria type 2
Glutaric aciduria type 3
Glutaric aciduria type 4
Glutaric aciduria type 5
Glutaric aciduria type 6
Glutathione synthetase deficiency
Glycerol kinase deficiency
Glycogen storage disease VIII due to muscle beta-enolase deficiency
Glycogen storage diseases (type 1) / Von Gierke disease
Gout
Growth hormone deficiency
Guanidinoacetate methyltransferase (GAMT) deficiency
Guanosine triphosphate cyclohydrolase I deficiency
Hartnup disease
Heart failure
Hereditary Fructose Intolerance
Hereditary hypophosphatemic rickets
Hereditary sensory and autonomic neuropathy
Hereditary Spastic Paraplegia
Hereditary vitmin D resistant rickets
Herpes Simplex Virus Type 1 in Alzheimer's disease
Hexokinase deficiency
Histamine Intolerance
Histidinemia
HIV associated neurocognitive disorders
HMG-CoA synthase (HMGCS) deficiency
Holocarboxylase synthetase deficiency
Homocarnosinosis
Homocystinuria
Huntington's disease
Hydrocephalus
Hyper beta-alaninemia
Hyperargininemia
Hyperbilirubinemia
Hypercarotenemia and 5 A deficiency
Hypermethioninemia (Methionine adenosyltransferase deficiency S-adenosylhomocysteine hydrolase deficiency)
Hyperoxalemia
Hyperprolinemia (HP)
Hypertension
Hypo5osis D
Hypocholesterolemia
Hypophosphatasia
Hypovitaminosis D
Hypoxanthine-guanine phosophoribosyltransferase deficiency
Hypoxia
Idiopathic infantile hypercalcemia (Williams syndrome)
Idiopathic intracranial hypertension
Invasive candidiasis
Ketosis
Krabbe disease
L-2-hydroxyglutaric aciduria
Lactic acidosis
Lathosterolosis
Leber congenital amaurosis (LCR)
Leigh syndrome
Lesch-Nyhan syndrome
Lethal congenital contractural syndrome (LCCS)
Leukemia
Lissencephaly (LIS) Miller-Dieker syndrome
Lowe syndrome
Lung cancer
Lysinuric 4 intolerance (Hyperdibasic aminoaciduria I)
Lysinuric protein intolerance
Majeed syndrome
Major depressive disorder
Malonyl-Coa decarboxylase deficiency
Maple syrup urine disease (MSUD)
Mastocytosis
Maturity onset diabetes of the young (MODY)
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
Meningitis
Metachromatic leukodystrophy (MLD)
Methacrylic aciduria / 3-Hydroxy-isobutyryl-CoA hydrolase (HIBCH) deficiency /Leigh-like disease
Methylcobalamin deficiency type G (cblG)
Miller Syndrome/Genee-wiede mann syndrome
Mitochondrial trifunctional 4 (TFP) deficiency (Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency)
Molebdnum Cofactor Defficiency
Mucopolysaccharidosis (MPS) and Hyaluronidase deficiency
Multiple carboxylase Deficiency/Holocarboxylase synthetase deficiency
Multiple sclerosis
N-acetylglutamate synthetase deficiency
Neurodegeneration with brain iron accumulation (NBIA)
Niemann-Pick disease (NPD) typeA and B
Obesity
Oculocutaneous albinism (OCA)
Ornithinaemia (Gyrate Atrophy)
Ornithine transcarbamylase deficiency
Orotic aciduria I
Osteomalasia
Osteoporosis
Parkinsons's Disease
Pellagra
Penile Cancer
Pentosuria
Peroxisomal Beta Oxidation Enzyme Deficiency (D-bifunctional 4 deficiency)
Peters anomaly
Phenylketonuria
Phenylketonuria (Phenylalanine hydroxylase deficiency)
Phosphofructokinase deficiency or Tarui's disease or Glycogen storage disease type VII
Phosphoglucomutase 1 deficiency
Phosphoglucomutase 1 deficiency, CONGENITAL DISORDER OF GLYCOSYLATION
Phosphoglycerate kinase deficiency
Phosphoglycerate mutase deficiency
Phosphoribosyl Pyrophosphate Synthetase
Phosphoribosyl Pyrophosphate synthetase-1 Superactivity
Phosphoserine aminotransferase (PSAT) deficiency
Poor Drug Metabolism
Postpartum depression
Pregnancy Complicated by Insulin-Dependent Diabetes Mellitus
Pregnene hydroxylation deficiency
Premenstrual dysphoric disorder
Primary dystonia
Primary hyperoxaluria II
Primary hyperoxaluria Type 1
Primary open angle glaucoma
Progressive familial intrahepatic cholestasis (PFIC)
Propionic acidemia
Prostate cancer
Pseudoxanthoma elasticum
Purine nucleoside phosphorylase deficiency
Pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency
Pyridoxine-dependent epilepsy
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase deficiency
Pyruvate dehydrogenase lipoic acid synthetase deficiency
Pyruvate kinase (PK) deficiency
Retinitis pigmentosa (RP)
Rett syndrome
Rhabdomyolysis
Rheumatoid arthritis
Rhizomelic chondrodysplasia punctata
Ribose 5 Phosphate Isomerase Deficiency
Ribose-5-phosphate isomerase deficiency
Rickets
Sarcosinemia
Schizophrenia
Sengers syndrome
Sialidosis; Muco2osis I
Sjogren-Larsson syndrome
Smith-Lemli-Opitz syndrome
Snyder-Robinson syndrome
Spina bifida( Neural tube defect )
Subarachnoid hemorrhage
Succinic semialdehyde dehydrogenase (SSADH) deficiency;
Succinic semialdehyde dehydrogenase (SSADH) deficiency; 4-Hydroxybutyric aciduria (4-HBA)
Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency
SUCLA2- and SUCLG1- related Mitochondrial DNA depletion syndrome (MDS)
SUCLA2-& SUCLG1-related Mitochondrial DNA depletion syndrome (MDS)
Sulfite oxidase deficiency
Systemic Primary Carnitine Deficiency
Thyroid cancer
Tourette syndrome
Transaldolase deficiency
Traumatic brain injury
Triosephosphate Isomerase deficiency
Tuberculous Meningitis
Type 1 Diabetes mellitus
Tyrosinemia I,II,III
Uremia
Urocanase deficiency
Vitamin B12 Deficiency
Vitamin D Dependent Rickets
X-Linked Chonsrodysplasia Punctata 2
X-linked ichthyosis (XLI)
Xanthinuria
