Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency)
Adenine phosphoribosyltransferase deficiency
Adenosine deaminase deficiency
Adenylate kinase (AK) deficiency
Adenylosuccinate lyase deficiency
Aldosterone biosynthesis defects
Aldosterone synthase deficiency
Alpha-ketoglutarate dehydrogenase deficiency (2-Ketoglutarate dehydrogenase complex deficiency)
Anemia due to disorder of glutathione metabolism
Anophthalmia and microphthalmia
Apparent mineralocorticoid excess syndrome
Argininosuccinate lyase deficiency/Argininosuccinic aciduria
Argininosuccinic aciduria (ARGINSA)/Argininosuccinate lyase deficiency
Argininosuccinic aciduria (ARGINSA); Argininosuccinate lyase deficiency
Aromatic L-amino acid decarboxylase (AADC) deficiency
Autoimmune Progesterone Dermatitis
Autosomal dominant polycystic kidney disease
Beta-ureidopropionase deficiency
Bisphosphoglycerate mutase deficiency
Brunner syndrome, MAOA deficiency
Carbamoyl Phosphate Synthetase Deficiency
Carnitine palmitoyltransferase 2 deficiency
Carnitine-acylcarnitine translocase deficiency
Cerebrotendinous Xanthomatosis
Combined deficiency of 5 K-dependent clotting factors (VKCFD)
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 systemic glutamine deficiency (CSGD) Glutamine synthetase deficiency
Cortisone reductase deficiency (CRD)
Coumarin Resistance/Warfarin Resistance
Creatine deficiency syndrome (Arginine:glycine amidinotransferase deficiency (AGAT deficiency)
Crigler-Najjar Syndrome/Hyperbilirubinemia
D-Glyceric acidemia Primary hyperoxaluria
Diaphyseal dysplasia with anemia (Ghosal)
Dihydrofolate reductase (DHFR) deficiency
Dihydropyrimidinase deficiency
Dihydropyrimidine dehydrogenase deficiency
Familial hyperinsulinemic hypoglycemia (HHF)
Formiminotransferase deficiency
Fructose 1,6 bisphosphatase deficiency
Fructose-1-6- bis phosphate Aldolase B deficiency or Fructosemia or Hereditary Fructose Intolerance
Fructose-1-6- bis phosphate Aldolase B deficiency or Fructosemia or Hereditary Fructose Intolerance
Galactose-1-phosphate uridyltransferase deficiency (Galactosemia)
Gaucher Disease (Glucocerebrosidase Deficiency, Glucosylceramidase Deficiency)
GBA associated Parkinson's Disease
Gilbert syndrome/ Hyperbilirubinemia
Gilbert syndrome/ Hyperbilirubinemia 1
Glucocorticoid-remediable aldosteronism (GRA)
Glucose phosphate isomerase (GPI) deficiency
Glutamine synthetase deficiency
Glutathione synthetase deficiency
Glycogen storage disease VIII due to muscle beta-enolase deficiency
Glycogen storage diseases (type 1) / Von Gierke disease
Guanidinoacetate methyltransferase (GAMT) deficiency
Guanosine triphosphate cyclohydrolase I deficiency
Hereditary Fructose Intolerance
Hereditary hypophosphatemic rickets
Hereditary sensory and autonomic neuropathy
Hereditary vitmin D resistant rickets
Herpes Simplex Virus Type 1 in Alzheimer's disease
HIV associated neurocognitive disorders
HMG-CoA synthase (HMGCS) deficiency
Holocarboxylase synthetase deficiency
Hypercarotenemia and 5 A deficiency
Hypoxanthine-guanine phosophoribosyltransferase deficiency
Idiopathic infantile hypercalcemia (Williams syndrome)
Idiopathic intracranial hypertension
Malonyl-Coa decarboxylase deficiency
Maple syrup urine disease (MSUD)
Maturity onset diabetes of the young (MODY)
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
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
Molebdnum Cofactor Defficiency
Mucopolysaccharidosis (MPS) and Hyaluronidase deficiency
Multiple carboxylase Deficiency/Holocarboxylase synthetase deficiency
N-acetylglutamate synthetase deficiency
Neurodegeneration with brain iron accumulation (NBIA)
Niemann-Pick disease (NPD) typeA and B
Ornithinaemia (Gyrate Atrophy)
Ornithine transcarbamylase deficiency
Peroxisomal Beta Oxidation Enzyme Deficiency (D-bifunctional 4 deficiency)
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
Pregnancy Complicated by Insulin-Dependent Diabetes Mellitus
Pregnene hydroxylation deficiency
Premenstrual dysphoric disorder
Progressive familial intrahepatic cholestasis (PFIC)
Purine nucleoside phosphorylase deficiency
Pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase deficiency
Pyruvate dehydrogenase lipoic acid synthetase deficiency
Pyruvate kinase (PK) deficiency
Rhizomelic chondrodysplasia punctata
Ribose 5 Phosphate Isomerase Deficiency
Ribose-5-phosphate isomerase deficiency
Spina bifida( Neural tube defect )
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)
Systemic Primary Carnitine Deficiency
Triosephosphate Isomerase deficiency
X-Linked Chonsrodysplasia Punctata 2
