Anaemia:haemolytic nonspherocytic (hereditary), type II | hexokinase deficiency | pyruvate kinase [PK] deficiency | triose-phosphate isomerase deficiency

This syndrome is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninemia and elevated serum creatine kinase levels. It has been described in thr

A rare metabolic myopathy with characteristics of muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria and elevation of serum creatine kinase. Caused by mutation in the SL

A form of diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Patients present with recurring episodes of hypogly

A form of diazoxide-sensitive diffuse hyperinsulinism characterised by episodes of hypoglycaemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Patients present with recurring episodes of hypogl

Deficiency of:phosphoenolpyruvate carboxykinase | pyruvate:carboxylase | dehydrogenase |

Disorders of pyruvate metabolism and gluconeogenesis

Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

Describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. The clinical manifestation is my

A rare, very severe form of mevalonate kinase deficiency with characteristics of dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

Complement C1s assay, serum/plasma Complement C1q binding assay, serum/plasma Complement binding protein assay NEC, serum/plasma Complement C1 esterase inhibitor assay, serum/plasma Complement assay NEC, serum/plasma Complement assay NEC, other fluid NEC Immunoglobulin A, serum/plasma Immunoglobulin A, urine Immunoglobulin A, other fluid NEC Immunoglobulin G, serum/plasma Immunoglobulin G, urine Immunoglobulin G, other fluid NEC Immunoglobulin M, serum/plasma Immunoglobulin M, urine Immunoglobulin M, other fluid NEC Immunoglobulin D, serum/plasma Immunoglobulin E, serum/plasma Immunoglobulin E, other fluid NEC Immunoglobulin G subclass(es), serum/plasma Immunoglobulin G subclass(es), other fluid NEC Immunoglobulin NEC, any specimen type 2,3 ...[+++]-Diphosphoglycerate, serum/plasma 2,3-Diphosphoglycerate, RBC Galactokinase, whole blood Galactokinase, RBC Galactose-1-phosphate uridyltransferase, whole blood Galactose-1-phosphate uridyltransferase, RBC Glucose-6-phosphate dehydrogenase screen, serum/plasma Glucose-6-phosphate dehydrogenase screen, RBC Glucose-6-phosphate dehydrogenase, serum/plasma Glucose-6-phosphate dehydrogenase, RBC Glutathione, RBC Hexokinase, serum/plasma Hexokinase, RBC Methemoglobin reductase, RBC NADH dehydrogenase, serum/plasma NADH dehydrogenase, RBC Phosphofructokinase, whole blood Phosphofructokinase, serum/plasma Phosphofructokinase, WBC Phosphofructokinase, RBC Pyrimidine 5-nucleotidase, whole blood Pyrimidine 5-nucleotidase, serum/plasma Pyruvate kinase, serum/plasma Pyruvate kinase, RBC Sphingomyelinase, whole blood Sphingomyelinase, tissue NEC Red blood cell enzyme NEC, any specimen type Alpha-acetylglucosaminidase, serum/plasma