The major cause of homocystinuria is mutation of the gene encoding the enzyme
cystathionine β‐synthase (CBS). Deficiency of CBS activity results in elevated levels of …

Primary systemic carnitine deficiency (SCD; OMIM 212140) is an autosomal recessive
disorder characterized by progressive cardiomyopathy, skeletal myopathy, hypoglycaemia …

Identification of the genes responsible for adult-onset type II citrullinemia (CTLN2) and citrin
protein function have enhanced our understanding of citrin deficiency. Citrin deficiency is …

Serum phenylalanine concentrations decreased in 4 patients with hyperphenylalaninemia
after loading with tetrahydrobiopterin. There were no abnormalities in urinary pteridine …

Propionic acidemia is an inborn error of metabolism caused by a deficiency of propionyl‐
CoA carboxylase, a heteropolymeric mitochondrial enzyme involved in the catabolism of …

Hartnup disorder, an autosomal recessive defect named after an English family described in
1956 (ref.), results from impaired transport of neutral amino acids across epithelial cells in …

Serum free-carnitine levels were determined in 973 unrelated white collar workers in Akita,
Japan. Fourteen of these participants consistently had serum free-carnitine levels below the …

Adult-onset type II citrullinemia (CTLN2) is characterized by a liver-specific
argininosuccinate synthetase deficiency caused by a deficiency of the citrin protein encoded …

Recent observations have suggested that the pathological mutations in human P-460 (C21)
deficiency are generated through gene conversion-like events between the functional gene …

Hematopoietic stem cell transplantation (HSCT) has not been indicated for patients with
mucopolysaccharidosis II (MPS II, Hunter syndrome), while it is indicated for …