Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome is a very rare, inherited condition reported only in a small number of people. It affects several body systems at once. The main ...
Tetrahydrobiopterin-deficient hyperphenylalaninemia due to PTS deficiency is a rare, inherited condition where the body cannot make enough tetrahydrobiopterin (BH4). BH4 is a helper molecule (a ...
Hyperphenylalaninemia due to 6-Pyruvoyltetrahydropterin Synthase (PTPS) Deficiency is a rare genetic problem where the body cannot make enough tetrahydrobiopterin (BH₄), a helper molecule needed to ...
bh4-deficient hyperphenylalaninemia type a happens when the body cannot make enough tetrahydrobiopterin (BH₄). BH₄ is a natural helper molecule (cofactor) that three brain and liver enzymes need to ...
6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency is a rare, inherited metabolic disorder. It belongs to a small group of conditions called tetrahydrobiopterin (BH4) deficiencies. BH4 is a ...
BH4-deficient hyperphenylalaninemia A is a rare inherited condition in which the body cannot make enough of a helper molecule called tetrahydrobiopterin (BH4). BH4 is essential for the enzyme that ...
Beta-alanine synthase deficiency is a very rare, inherited problem with breaking down the DNA/RNA building blocks called pyrimidines. Because one step in this pathway is weak, two “half-broken” ...
Beta-ureidopropionase deficiency is a very rare, inherited disorder of pyrimidine breakdown (the pathway the body uses to clear the building blocks of DNA and RNA, uracil and thymine). The problem ...
Thrombocytopenia with X-linked recessive beta-thalassemia is a rare, inherited blood disorder that affects two blood cell lines at the same time: platelets (which help stop bleeding) and red blood ...
Beta-thalassemia–X-linked thrombocytopenia syndrome is a rare, inherited blood disorder that mainly affects boys and men. It happens when a gene on the X chromosome called GATA1 does not work ...
Peroxisomal thiolase deficiency (historical label) was used for a suspected single-enzyme defect of the peroxisome pathway (enzyme: peroxisomal 3-ketoacyl-CoA thiolase, gene ACAA1). Later work ...
Mitochondrial acetoacetyl-coenzyme A thiolase deficiency is a rare, inherited problem with body chemistry. The body cannot properly break down the amino acid isoleucine, and it also struggles to use ...
Mitochondrial 2-methylacetoacetyl-CoA thiolase (ACAT1) deficiency—also called beta-ketothiolase (BKT) deficiency and sometimes described in older literature as showing “potassium-stimulated” ...
Deficiency of acetyl-coenzyme A acetyltransferase is a rare, inherited metabolic disorder. It happens when a specific enzyme inside the mitochondria does not work well. The enzyme is called ...
ACAT1 deficiency is a rare, inherited condition where the body cannot properly use the enzyme acetoacetyl-CoA thiolase. This enzyme helps the body break down the amino acid isoleucine and also helps ...
Alpha-methylacetoacetic aciduria is a rare, inherited metabolic disease. The body lacks enough activity of an enzyme called mitochondrial acetoacetyl-CoA thiolase (also called beta-ketothiolase or ...
Alpha-methyl-acetoacetyl-CoA thiolase deficiency is a rare, inherited metabolic disorder. It is also called beta-ketothiolase (BKT) deficiency or ACAT1 deficiency. In this condition, a mitochondrial ...
Alpha-methylacetoacetic aciduria is a rare, inherited metabolic disorder. The body cannot use a key enzyme (called mitochondrial acetoacetyl-CoA thiolase, also called beta-ketothiolase or ACAT1). ...
3-methyl-3-hydroxybutyric acidemia (the condition most newborn-screening programs and medical references call 2-methyl-3-hydroxybutyric acidemia, or HSD10 disease / MHBD deficiency). It’s a very ...
2-methyl-3-hydroxybutyricacidemia is a rare inherited metabolic disease. Your body cannot properly break down the amino acid isoleucine and cannot use ketone bodies well. Ketone bodies are emergency ...
