Type I Type II X-linked KAL1 Type III Autosomal dominant / FGFR1 Type IV Autosomal recessive PROKR2 PROK2 Autosomal recessive cystatin B (CST6) lysosomal pepstatin Autosomal recessive insensitive protease mt-DNA mutations affecting Maternal tRNALys Autosomal recessive Autosomal dominant ataxin-1,-2,-7 X-linked X-linked proteolipid protein 1 (PLP1) Autosomal recessive cystatin B (CST6) Metabolism Autosomal dominant porphobilinogen deaminase Autosomal recessive Arginase Autosomal recessive Argininosuccinate lyase Argininosuccinic acid Autosomal recessive synthase Autosomal recessive biotinidase Carbamoyl phosphate Autosomal recessive synthetase carnitine palmitoyltransferase Autosomal recessive 1A (CPT1A) phosphomannomutase Autosomal recessive (PMM2) protein kinase (CABC1 or Autosomal recessive ADCK3) sterol 27-hydoxylase Autosomal recessive (CYP27A1) sterol 27-hydoxylase Autosomal recessive (CYP27A1) Autosomal recessive beta-glucocerebrosidase Glucose transport protein 1 Autosomal dominant (SLC2A1) Glycogenoses glucose-6-phosphatase acid Autosomal recessive maltase debrancher enzyme brancher Autosomal recessive enzyme muscle Autosomal recessive phosphorylase liver Autosomal recessive phosphorylase b phosphorylase Autosomal recessive kinase phosphoglycerate X-linked recessive Type VIII kinase phosphoglycerate X-linked recessive Type IX mutase lactate Autosomal recessive Type X dehydrogenase aldolase A Autosomal recessive Type XI Autosomal recessive Type XII hexoaminidase A or of the Autosomal recessive GM2 protein activator Autosomal recessive pantothenate kinase
Type I Type II Type III Type IV X-linked Autosomal dominant / Autosomal recessive KAL1 FGFR1 PROKR2 PROK2 Autosomal recessive cystatin B (CST6) Autosomal recessive lysosomal pepstatin insensitive protease Maternal mt-DNA mutations affecting tRNALys Autosomal recessive Autosomal dominant X-linked ataxin-1,-2,-7 X-linked proteolipid protein 1 (PLP1) Autosomal recessive cystatin B (CST6) Metabolism Autosomal dominant porphobilinogen deaminase Autosomal recessive Arginase Autosomal recessive Argininosuccinate lyase Autosomal recessive Argininosuccinic acid synthase Autosomal recessive biotinidase Autosomal recessive Carbamoyl phosphate synthetase Autosomal recessive carnitine palmitoyltransferase 1A (CPT1A) Autosomal recessive phosphomannomutase (PMM2) Autosomal recessive protein kinase (CABC1 or ADCK3) Autosomal recessive sterol 27-hydoxylase (CYP27A1) Autosomal recessive sterol 27-hydoxylase (CYP27A1) Autosomal recessive beta-glucocerebrosidase Autosomal dominant Glucose transport protein 1 (SLC2A1) Glycogenoses Type VIII Type IX Type X Type XI Type XII Autosomal recessive Autosomal recessive Autosomal recessive Autosomal recessive Autosomal recessive X-linked recessive X-linked recessive Autosomal recessive Autosomal recessive Autosomal recessive glucose-6-phosphatase acid maltase debrancher enzyme brancher enzyme muscle phosphorylase liver phosphorylase phosphorylase b kinase phosphoglycerate kinase phosphoglycerate mutase lactate dehydrogenase aldolase A Autosomal recessive hexoaminidase A or of the GM2 protein activator Autosomal recessive pantothenate kinase
Hereditary_diseases.docx