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Figure 1.

The biotin cycle
Free biotin enters the cycle from dietary sources or from the cleavage of biocytin or biotinyl-peptides by the action of biotinidase. The free biotin is then covalently attached to the various apocarboxylases, propionyl-CoA carboxylase (PCC), beta-methylcrotonyl-CoA carboxylase (MCC), pyruvate carboxylase (PC), and acetyl-CoA carboxylase (ACC) by the action of biotin holocarboxylase synthetase, thereby forming active holocarboxylases. The holocarboxylases are subsequently proteolyzed to biocytin and/or biotinyl-peptides which are then further cleaved by biotinidase, thus recycling the biotin. The liberated biotin can then enter the free biotin pool. Isolated deficiencies of each of the carboxylases and deficiencies of both holocarboxylase synthetase and biotinidase can occur.

Biotinidase Deficiency.

Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.
Figure 1.

NBIA Types
PKAN = pantothenate kinase-associated neurodegeneration
PLAN = PLA2G6-associated neurodegeneration
MPAN = mitochondrial membrane protein-associated neurodegeneration
BPAN = beta-propeller protein-associated neurodegeneration
Minor forms include those associated with pathogenic variants in ATP13A2, FA2H, FTL, CP, and DCAF17. Frequencies are based on 850 families worldwide collected over 25 years in a repository of neurodegeneration with brain iron accumulation.

Neurodegeneration with Brain Iron Accumulation Disorders Overview.

Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.
Figure 1.

Metabolic pathway. Propionyl-CoA carboxylase (PCC) catalyzes the conversion of propionyl-CoA to methylmalonyl-CoA, which enters the Krebs cycle via succinyl-CoA. Sources of propionate include: valine, isoleucine, threonine, methionine, odd-chain fatty acids, and cholesterol. Deficiency of PCC results in propionic acidemia (PA) and accumulation of 3-OH propionate, methylcitrate, and glycine, among other metabolites. PCC, located inside the mitochondrion, is a heterododecamer (α6β6) comprising six α-subunits (orange) and six β-subunits (purple). Biotin (blue), bicarbonate, and ATP have binding sites in the α-subunit. The β-subunits form a central core.

Propionic Acidemia.

Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.
Figure 1

A. Left axial image shows high brain iron in the globus pallidus (see arrow) on T₂-weighted MRI.
B. Right sagittal image shows cerebellar atrophy (see arrow).

PLA2G6-Associated Neurodegeneration.

Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.

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("alpha-tocopherol"[All Fields] OR "alpha tocopherol, d"[All Fields]) OR ("ascorbic acid"[MeSH Terms] OR ("ascorbic"[All Fields] AND "acid"[All Fields]) OR "ascorbic acid"[All Fields]) OR (("beta"[All Fields] AND "carotene"[All Fields]) OR "beta carotene"[All Fields]) OR "biotin"[All Fields] OR ("cholecalciferol"[MeSH Terms] OR "cholecalciferol"[All Fields]) OR (chronic[All Fields] AND action[All Fields]) OR (cupric[All Fields] AND ("cations"[All Fields] OR "cation"[All Fields])) OR ("vitamin b 12"[All Fields] OR "cyanocobalamin"[All Fields]) OR ("folic acid"[MeSH Terms] OR ("folic"[All Fields] AND "acid"[All Fields]) OR "folic acid"[All Fields]) OR ("iron"[MeSH Terms] OR "iron"[All Fields]) OR "lutein"[All Fields] OR "lycopene"[All Fields] OR (("magnesium"[MeSH Terms] OR "magnesium"[All Fields]) AND ("cations"[All Fields] OR "cation"[All Fields])) OR "niacinamide"[All Fields] OR (("pantothenic"[All Fields] AND "acid"[All Fields]) OR "pantothenic acid"[All Fields]) OR "pyridoxine"[All Fields] OR "riboflavin"[All Fields] OR ((("selenic"[All Fields] AND "acid"[All Fields]) OR "selenic acid"[All Fields] OR "selenate"[All Fields]) AND ("ions"[MeSH Terms] OR "ions"[All Fields] OR "ion"[All Fields])) OR ("thiamine"[All Fields] AND ("ions"[MeSH Terms] OR "ions"[All Fields] OR "ion"[All Fields])) OR (("thioctic"[All Fields] AND "acid"[All Fields]) OR "thioctic acid"[All Fields]) OR (("zinc"[All Fields] AND "oxide"[All Fields]) OR "zinc oxide"[All Fields])

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.alpha. tocopherol, d- OR ascorbic acid OR .beta. carotene OR bio... (32936)
.alpha. tocopherol, d- OR ascorbic acid OR .beta. carotene OR biotin OR cholecalciferol OR chronic action OR cupric cation OR cyanocobalamin OR folic acid OR iron OR lutein OR lycopene OR magnesium cation OR niacinamide OR pantothenic acid OR pyridoxine OR riboflavin OR selenate ion OR thiamine ion OR thioctic acid OR zinc oxide
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