sporatic (PANK2) sodium-dependent and chloride-independent neutral Autosomal recessive amino acid transporter (SLC6A19) cystathionine-beta-synthase (CBS) Autosomal recessive (MTHFR, MTR, MTRR, and MMADHC) Autosomal dominant huntingtin (CAG repeats) hepatic hydroxyglutaric acid Autosomal recessive dehydrogenase (L2HGDH) galactosylceramide Autosomal recessive protein tyrosine phosphatase Autosomal recessive (laforin) pyruvate Autosomal recessive dehydrogenase complex I II complex complex III cytochrome oxidase maternal (mDNA) C mitochondrial ATPase 6 hypoxanthine-guanine X-linked recessive phosphoribosyl transferase (HPRT) cholesterol trafficking palmitoyl Lipidoses protein thioesterase 1 Autosomal recessive (CLN1), tripeptidyl peptidase Autosomal recessive 1 (CLN2) acid Autosomal recessive lysosomal lipase (LIPA) cystinosin sialin Lysosomal transport diseases Autosomal recessive Autosomal recessive (SLC17A5) branched chain alpha keto Autosomal recessive acid dehydrogenase complex (E1, E2, or E3 subunits) nucleotide exchange factor Autosomal recessive for the heat-shock protein 70 (HSP70) chaperone HSPA5 Medium-chain Acyl-CoA Autosomal recessive dehydrogenase P-type adenosine X-linked triphosphatase (ATPase) (ATP7A) arylsulfatase A/sphingolipid Autosomal recessive activator Protein (SAP) methylmalonyl-CoA mutase (MUT0, MUT-) Autosomal recessive 5'-deoxyadenosylcobalamin (CBLA, CBLB, CBLH, CBLC, CBLD, CBLF)
sporatic (PANK2) Autosomal recessive sodium-dependent and chloride-independent neutral amino acid transporter (SLC6A19) Autosomal recessive cystathionine-beta-synthase (CBS) (MTHFR, MTR, MTRR, and MMADHC) Autosomal dominant huntingtin (CAG repeats) Autosomal recessive hepatic hydroxyglutaric acid dehydrogenase (L2HGDH) Autosomal recessive galactosylceramide Autosomal recessive protein tyrosine phosphatase (laforin) Autosomal recessive maternal (mDNA) pyruvate dehydrogenase complex I complex II complex III cytochrome oxidase C mitochondrial ATPase 6 X-linked recessive hypoxanthine-guanine phosphoribosyl transferase (HPRT) Lipidoses Autosomal recessive Autosomal recessive Autosomal recessive cholesterol trafficking palmitoyl protein thioesterase 1 (CLN1), tripeptidyl peptidase 1 (CLN2) lysosomal acid lipase (LIPA) Lysosomal transport diseases Autosomal recessive Autosomal recessive cystinosin sialin (SLC17A5) Autosomal recessive branched chain alpha keto acid dehydrogenase complex (E1, E2, or E3 subunits) Autosomal recessive nucleotide exchange factor for the heat-shock protein 70 (HSP70) chaperone HSPA5 Autosomal recessive Medium-chain Acyl-CoA dehydrogenase X-linked P-type adenosine triphosphatase (ATPase) (ATP7A) Autosomal recessive arylsulfatase A/sphingolipid activator Protein (SAP) Autosomal recessive methylmalonyl-CoA mutase (MUT0, MUT-) 5'-deoxyadenosylcobalamin (CBLA, CBLB, CBLH, CBLC, CBLD, CBLF)
Hereditary_diseases.docx