<unk>  is an autosomal recessive disorder. Both the parents of an afflicted child must be heterozygous carriers for the disease and therefore must carry one mutant allele. As it is an autosomal disorder, those heterozygous for the disorder may not display any atypical characteristics that are considered suggestive of the disorder, however there have been reported cases of compound heterozygosity in which heterozygous individuals do develop the classic form of the disease. The disorder is caused by a mutant PANK2 gene located at the chromosomal locus: 20p13-p12.3. PANK2 is responsible for coding the protein<unk><unk>  2. PANK2 encodes the enzyme<unk><unk> , and mutations in the gene lead to an inborn error of vitamin B5<unk>  metabolism. Vitamin B5 is required for the production of coenzyme A in cells. Disruption of this enzyme affects energy and lipid metabolism and may lead to accumulation of potentially harmful compounds in the brain, including iron. PANK2 encodes a 1.85Kb transcript which is derived from seven exons covering a total distance of approximately 3.5Mb of genomic DNA. The PANK2 gene also encodes a 50.5-kDaprotein that is a functional<unk><unk> , an essential regulatory enzyme in coenzyme A (CoA) biosynthesis, and catalyzing the phosphorylation of<unk>  (vitamin B5), N-pantothenoyl-cysteine, and pantetheine (OMIM). Mutant PANK2 gene coded proteins are often caused by null or missense mutations most notably a 7bp deletion in the PANK2 gene coding sequence. This disorder has been reported in specific communities based on intra-community marriages where both parents of the child are carrying the same mutation. One of the communities reported is Agrawal (Agarwal) Community mainly based in Northern Part of India. The known mutation in Agarwal community is pathogenic mutation 1c.215_216insA in PANK2 gene. This is also coded as chr20:3870292-3870293insA by some labs. It results in a frameshift and premature truncation of the protein 47 amino acids downstream to codon 183 (p.Arg183GlufsTer47; ENST00000316562).
Pantothenate kinase-associated neurodegeneration
Cerebral creatine deficiency
Neuronal ceroid lipofuscinosis
N-Acetylglutamate synthase deficiency
Autoimmune GFAP astrocytopathy
Dopamine beta hydroxylase deficiency
Glycogen storage disease
Lysosomal storage disease