A

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

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

B

Benign gynecological diseases

Beta-ureidopropionase deficiency

Biotinidase deficiency

Bipolar Disorder

Bisphosphoglycerate mutase deficiency

Breast Cancer

Brunner syndrome, MAOA deficiency

C

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)

Congenital adrenal hyperplasia (CAH)

Congenital Bile Acid Synthesis Defect

Congenital disorder of glycosylation / 1-deficient glyco4 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

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

E

Eczema

Endometrial cancer

Epilepsy

Esophageal Cancer

F

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- bis phosphate Aldolase B deficiency or Fructosemia or Hereditary Fructose Intolerance

Fumarase Deficency

G

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 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

H

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

I

Idiopathic infantile hypercalcemia (Williams syndrome)

Idiopathic intracranial hypertension

Invasive candidiasis

J
K

Ketosis

Krabbe disease

L

M

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 DNA depletion syndrome (MDS) (Deoxyguanosine kinase deficiency)

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

N-acetylglutamate synthetase deficiency

Neurodegeneration with brain iron accumulation (NBIA)

Niemann-Pick disease (NPD) typeA and B

O

Obesity

Oculocutaneous albinism (OCA)

Ornithinaemia (Gyrate Atrophy)

Ornithine transcarbamylase deficiency

Orotic aciduria I

Osteomalasia

Osteoporosis

P

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, CONGENITAL DISORDER OF GLYCOSYLATION

Phosphoglycerate kinase deficiency

Phosphoglycerate mutase deficiency

Phosphoribosyl Pyrophosphate Synthetase

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 lipoic acid synthetase deficiency

Pyruvate kinase (PK) deficiency

Q
R

Retinitis pigmentosa (RP)

Rett syndrome

Rhabdomyolysis

Rheumatoid arthritis

Rhizomelic chondrodysplasia punctata

Ribose 5 Phosphate Isomerase Deficiency

Rickets

S

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;

Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency

Sulfite oxidase deficiency

Systemic Primary Carnitine Deficiency

T

Thyroid cancer

Tourette syndrome

Transaldolase deficiency

Traumatic brain injury

Triosephosphate Isomerase deficiency

Tuberculous Meningitis

Type 1 Diabetes mellitus

Tyrosinemia I,II,III

U

Uremia

Urocanase deficiency

V

Vitamin B12 Deficiency

Vitamin D Dependent Rickets

W
X

X-Linked Chonsrodysplasia Punctata 2

X-linked ichthyosis (XLI)

Xanthinuria

Y
Z