IMDs

4. Disorders affecting the metabolism of complex macromolecules and organelles

4.1 Congenital disorders of glycosylation

a. Disorders of N-linked protein glycosylation

  • PMM2-CDG
  • MPI-CDG
  • DPAGT1-CDG
  • ALG13-CDG
  • ALG14-CDG
  • ALG1-CDG
  • ALG2-CDG
  • ALG11-CDG
  • RFT1-CDG
  • ALG3-CDG
  • ALG9-CDG
  • ALG12-CDG
  • ALG6-CDG
  • ALG8-CDG (ALG8-CDG, recessive; polycystic liver disease type 3, dominant)
  • DDOST-CDG
  • TUSC3-CDG
  • STT3A-CDG
  • STT3B-CDG
  • OSTC-CDG
  • MAGT1-CDG
  • SSR3-CDG
  • SSR4-CDG
  • MOGS-CDG
  • GANAB-CDG (Polycystic kidney disease type 3)
  • PRKCSH-CDG (Polycystic liver disease type 1)
  • MAN1B1-CDG
  • MAN2B2-CDG
  • MGAT2-CDG
  • B4GALT1-CDG
  • FUT8-CDG
  • FUK-CDG

b. Disorders of O-linked protein glycosylation

Disorders of O-mannosylation
  • POMT1-CDG (Muscular dystrophy-dystroglycanopathy type A1, severe); MDDGB1, intermediate; MDDGC1, milder)
  • POMT2-CDG (MDDGA2; MDDGB2; MDDGC2)
  • POMGNT1-CDG (MDDGA3; MDDGB3; MDDGC3; retinitis pigmentosa type 76)
  • POMGNT2-CDG (MDDGA8)
  • B3GALNT2-CDG (MDDGA11)
  • POMK-CDG (MDDGA12; MDDGC12)
  • CRPPA-CDG (MDDGA7; MDDGC7)
  • FKTN-CDG (MDDGA4; MDDGB4; MDDGC4)
  • FKRP-CDG (MDDGA5; MDDGB5; MDDGC5)
  • RXYLT1-CDG (MDDGA1)
  • B4GAT1-CDG (MDDGA13)
  • LARGE1-CDG (MDDGA6; MDDGB6)
Disorders of O-fucosylation
  • POFUT1-CDG (Dowling-Degos disease type 2)
  • LFNG-CDG (Spondylocostal dysostosis type 3)
  • B3GLCT-CDG (Peters-Plus syndrome)
Disorders of glycosaminoglycan synthesis and O-xylosylation
  • Glycosaminoglycan xylosylkinase deficiency
  • XYLT1-CDG (Desbuquois dysplasia type 2)
  • XYLT2-CDG (Spondyloocular syndrome)
  • B4GALT7-CDG (Progeroid Ehlers-Danlos syndrome type 1; Larsen of Reunion Island syndrome)
  • B3GALT6-CDG (Spondyloepimetaphyseal dysplasia with joint laxity type 1; progeroid Ehlers-Danlos syndrome type 2)
  • B3GAT3-CDG (Larsen-like syndrome)
  • Multiple hereditary exostoses type 1 (Multiple hereditary exostoses type 1)
  • Multiple hereditary exostoses type 2 (Multiple hereditary exostoses type 2)
  • Autosomal recessive EXT2-related syndrome
  • EXTL3-CDG (Immunoskeletal dysplasia with neurodevelopmental abnormalities)
  • NDST1-CDG (Autosomal recessive intellectual disability type 46)
  • HS6ST1-CDG (Hypogonadotropic hypogonadism type 15 with or without anosmia)
  • HS6ST2-CDG (X-linked intellectual disability, Paganini-Miozzo type)
  • CSGALNACT1-CDG
  • CHSY1-CDG (Temtamy preaxial brachydactyly syndrome)
  • CHST11-CDG
  • CHST3-CDG (Autosomal recessive Larsen syndrome; spondyloepiphyseal dysplasia Omani type; humerospinal dysostosis)
  • CHST14-CDG (Ehlers-Danlos syndrome musculocontractural type 1)
  • DSE-CDG (Ehlers-Danlos syndrome musculocontractural type 2)
  • CHST6-CDG (Macular corneal dystrophy)
  • CANT1-CDG (Desbuquois dysplasia type 1; multiple epiphyseal dysplasia type 7)
  • Sulfate transporter deficiency (Achondrogenesis type 1; atelosteogenesis type 2; diastrophic dysplasia; multiple epiphyseal dysplasia type 4)
  • Phosphoadenosine 5′-phosphosulfate synthetase 2 deficiency (Spondyloepimetaphyseal dysplasia, Pakistani type)
  • Golgi-resident phosphoadenosine phosphate phosphatase deficiency (Chondrodysplasia with joint dislocations, gPAPP type)
  • SLC10A7-CDG
Other disorders of O-linked protein glycosylation
  • GALNT3-CDG (Hyperphosphatemic familial tumoral calcinosis type 1; hyperostosis-hyperphosphatemia syndrome)
  • GALNT14-CDG
  • C1GALT1C-CDG (Tn polyagglutination syndrome)
  • OGT-CDG (X-linked intellectual disability type 16)
  • EOGT-CDG (Adams-Oliver syndrome type 4)
  • POGLUT1-CDG (Dowling-Degos disease type 4)

c. Disorders of lipid glycosylation

Disorders of glycosylphosphatidylinositol biosynthesis
  • PIGA-CDG (Multiple congenital anomalies-hypotonia-seizures syndrome type 2; GPI biosynthesis defect type 4; early infantile epileptic encephalopathy type 2)
  • PIGC-CDG (GPI biosynthesis defect type 16; autosomal recessive intellectual disability type 62)
  • PIGQ-CDG
  • PIGH-CDG
  • PIGP-CDG (GPI biosynthesis defect type 14; early infantile epileptic encephalopathy type 55)
  • PIGY-CDG (Hyperphosphatasia with intellectual disability type 6; GPI biosynthesis defect type 12)
  • PIGL-CDG (CHIME syndrome; GPI biosynthesis defect type 5)
  • PIGW-CDG (Hyperphosphatasia with intellectual disability type 5; GPI biosynthesis defect type 11)
  • PIGM-CDG (GPI biosynthesis defect type 1)
  • PIGV-CDG (Hyperphosphatasia with intellectual disability type 1; GPI biosynthesis defect type 2)
  • PIGN-CDG (Multiple congenital anomalies-hypotonia-seizures syndrome type 1; GPI biosynthesis defect type 3)
  • PIGB-CDG
  • PIGO-CDG (Hyperphosphatasia with intellectual disability type 2; GPI biosynthesis defect type 6)
  • PIGG-CDG (Autosomal recessive intellectual disability type 53; GPI biosynthesis defect type 13)
  • PIGT-CDG (Multiple congenital anomalies-hypotonia-seizures syndrome type 3, GPI biosynthesis defect type 7)
  • PIGS-CDG
  • PIGU-CDG
  • PIGK-CDG
  • GPAA1-CDG (GPI biosynthesis defect type 15)
  • PGAP1-CDG (Autosomal recessive intellectual disability type 42; GPI biosynthesis defect type 9)
  • PGAP3-CDG (Hyperphosphatasia with intellectual disability type 4; GPI biosynthesis defect type 1)
  • PGAP2-CDG (Hyperphosphatasia with intellectual disability type 3; GPI biosynthesis defect type 8)
Other disorders of lipid glycosylation
  • ST3GAL5-CDG (GM3 synthase deficiency; Amish infantile epilepsy syndrome; salt and pepper developmental regression syndrome)
  • B4GALNT1-CDG (GM2/GD2 synthase deficiency; autosomal recessive spastic paraplegia type 26)
  • ST3GAL3-CDG (GD1a/GT1b synthase deficiency)
  • A4GALT-CDG (GB3 synthase deficiency; NOR polyagglutination syndrome)

d. Disorders of multiple glycosylation pathways

Disorders of dolichol metabolism
  • DHDDS-CDG
  • NUS1-CDG
  • SRD5A3-CDG
  • DOLK-CDG
  • DPM1-CDG
  • DPM2-CDG
  • DPM3-CDG
  • MPDU1-CDG
Disorders of Golgi transport
  • SLC35A1-CDG
  • SLC35A2-CDG (Early infantile epileptic encephalopathy 22)
  • SLC35A3-CDG
  • SLC35C1-CDG
  • SLC35D1-CDG (Schneckenbecken dysplasia; SLC35D1-CDG)
Disorders of Golgi homeostasis
  • ATP6V0A2-CDG (Autosomal recessive cutis laxa type 2A – wrinkly skin syndrome)
  • ATP6V1A-CDG (Autosomal recessive cutis laxa type 2D)
  • ATP6V1E1-CDG (Autosomal recessive cutis laxa type 2C)
  • ATP6AP1-CDG (Immunodeficiency type 47)
  • ATP6AP2-CDG (X-linked intellectual disability, Hedera type)
  • TMEM199-CDG (TMEM199-CDG)
  • CCDC115-CDG
  • VMA21-CDG
  • TMEM165-CDG (TMEM165-CDG)
  • SLC9A7-CDG (Sodium/hydrogen exchanger type 7 deficiency)
Disorders of sialic acid metabolism
  • UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase deficiency (GNE myopathy; Nonaka myopathy)
  • UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase superactivity (Sialuria)
  • N-acetylneuraminic acid-9-phosphate synthase deficiency (NANS-CDG; spondyloepimetaphyseal dysplasia Camera-Genevieve type)
  • N-acetylneuraminate pyruvate lyase deficiency (Sialic acid aldolase deficiency)
Other disorders of multiple glycosylation pathways
  • GFPT1-CDG (Congenital myasthenic syndrome type 12)
  • PGM1-CDG (PGM1-CDG; glycogen storage disease type 14)
  • PGM3-CDG (PGM3-CDG; immunodeficiency type 23)
  • GNPNAT1-CDG
  • GMPPA-CDG (Alacrima, achalasia, and intellectual disability syndrome)
  • GMPPB-CDG (MDDGA14; MDDGB14; MDDGC14)
  • UGDH-CDG (Early infantile epileptic encephalopathy type 84)
  • UGP2-CDG (Early infantile epileptic encephalopathy type 83)

e. Other disorders of glycan metabolism

  • N-glycanase 1 deficiency NGLY1-CDDG

4.2 Disorders of organelle biogenesis, dynamics and interaction

a. Disorders of mitochondrial membrane biogenesis and remodeling

  • SERAC1 deficiency (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh- like syndrome – MEGDEL)
  • Tafazzin deficiency (Barth syndrome)
  • Phosphatidylserine decarboxylase deficiency
  • PNPLA4 deficiency
  • PNPLA8 deficiency (Mitochondrial myopathy with lactic acidosis)
  • MICOS complex subunit MIC13 deficiency
  • MICOS complex subunit MIC26 deficiency
  • CHCHD2 deficiency (Autosomal dominant Parkinson disease type 22)
  • CHCHD10 deficiency (Spinal muscular atrophy, Jokela type; frontotemporal dementia type 2)

b. Disorders of mitochondrial and peroxisomal dynamics

  • OPA1 deficiency (Optic atrophy type 1, dominant; Behr syndrome, recessive)
  • OPA3 deficiency (Optic atrophy type 3, dominant; 3-methylglutaconic aciduria type 3, Costeff syndrome, recessive)
  • Mitofusin 2 deficiency (Axonal Charcot-Marie-Tooth type 2A2)
  • MSTO1 deficiency (Mitochondrial myopathy and ataxia)
  • MIEF2 deficiency
  • Dynamin-like protein 1 deficiency (Optic atrophy type 5; encephalopathy due to defective mitochondrial and peroxisomal fission type 1)
  • Mitochondrial fission factor deficiency (Encephalopathy due to defective mitochondrial and peroxisomal fission type 2)
  • Spartin deficiency
  • SPATA5 deficiency
  • GDAP1 deficiency (Axonal Charcot-Marie-Tooth type 2K; demyelinating Charcot-Marie-Tooth disease type 4A)
  • STAT2 deficiency (Immunodeficiency type 44)
  • UGO-1 like protein deficiency (Hereditary motor and sensory neuropathy type 6B)
  • Trafficking kinesin-binding protein 1 deficiency

c. Peroxisomal biogenesis disorders

  • Peroxin 1 deficiency (Peroxisome biogenesis disorder 1A, Zellweger syndrome; peroxisome biogenesis disorder 1B, neonatal adrenoleukodystrophy/infantile Refsum disease; Heimler syndrome type 1)
  • Peroxin 2 deficiency (Peroxisome biogenesis disorder 5A, severe; peroxisome biogenesis disorder 5B, milder)
  • Peroxin 3 deficiency (Peroxisome biogenesis disorder 1A, severe; peroxisome biogenesis disorder 1B, milder)
  • Peroxin 5 deficiency (Rhizomelic chondrodysplasia punctata type 5)
  • Peroxin 6 deficiency (Peroxisome biogenesis disorder 5A, severe; peroxisome biogenesis disorder 5B, intermediate; Heimler syndrome type 2, milder)
  • Peroxin 10 deficiency (Peroxisome biogenesis disorder 6A, severe; peroxisome biogenesis disorder 6B, milder)
  • Peroxin 11B deficiency (Peroxisome biogenesis disorder 14B)
  • Peroxin 12 deficiency (Peroxisome biogenesis disorder 3A, severe; peroxisome biogenesis disorder 3B, milder)
  • Peroxin 13 deficiency (Peroxisome biogenesis disorder 11A, severe; peroxisome biogenesis disorder 11B, milder)
  • Peroxin 14 deficiency (Peroxisome biogenesis disorder 13A)
  • Peroxin 16 deficiency (Peroxisome biogenesis disorder 8A, severe; peroxisome biogenesis disorder 8B, milder)
  • Peroxin 19 deficiency (Peroxisome biogenesis disorder 12A)
  • Peroxin 26 deficiency (Peroxisome biogenesis disorder 7A, severe; peroxisome biogenesis disorder 7B, milder)

d. Disorders of lysosome-related organelle biogenesis

  • Mucopolysaccharidosis-plus syndrome
  • Arthrogryposis-renal dysfunction-cholestasis syndrome type 1
  • Hypomyelinating leukodystrophy type 12
  • Hermansky-Pudlak syndrome type 1
  • Hermansky-Pudlak syndrome type 2
  • Hermansky-Pudlak syndrome type 3
  • Hermansky-Pudlak syndrome type 4
  • Hermansky-Pudlak syndrome type 5
  • Hermansky-Pudlak syndrome type 6
  • Hermansky-Pudlak syndrome type 7
  • Hermansky-Pudlak syndrome type 8
  • Hermansky-Pudlak syndrome type 9
  • Hermansky-Pudlak syndrome type 10
  • Chediak-Higashi syndrome
  • Griscelli syndrome type 1
  • Griscelli syndrome type 2
  • Griscelli syndrome type 3

e. Disorders of organelle interplay

  • EMC1 deficiency
  • Acyl-CoA-binding domain-containing protein 5 deficiency
  • BAP31 deficiency (Deafness, dystonia, and cerebral hypomyelination)
  • VAPB deficiency
  • Ceramide transfer protein superactivity (Autosomal dominant intellectual disability type 34)
  • Choreoacanthocytosis
  • Cohen syndrome
  • VPS13C deficiency (Autosomal recessive Parkinson disease type 23)
  • VPS13D deficiency (Autosomal recessive spinocerebellar ataxia type 4)

f. Disorders of vesicular trafficking

  • Conserved oligomeric Golgi complex subunit 1 deficiency (COG1-CDG)
  • Conserved oligomeric Golgi complex subunit 2 deficiency (COG2-CDG)
  • Conserved oligomeric Golgi complex subunit 4 deficiency (COG4-CDG)
  • Conserved oligomeric Golgi complex subunit 4 superactivity (Saul-Wilson syndrome)
  • Conserved oligomeric Golgi complex subunit 5 deficiency (COG5-CDG)
  • Conserved oligomeric Golgi complex subunit 6 deficiency (COG6-CDG)
  • Conserved oligomeric Golgi complex subunit 7 deficiency (COG7-CDG)
  • Conserved oligomeric Golgi complex subunit 8 deficiency (COG8-CDG)
  • Jagunal 1 deficiency (Severe congenital neutropenia type 6)
  • COPA deficiency (Autoimmune interstitial lung, joint, and kidney disease)
  • COPB2 deficiency
  • Archain 1 deficiency
  • Craniolenticulosutural dysplasia
  • Congenital dyserythropoietic anemia type 2 (SEC23B-CDG)
  • TRIP11-CDG
  • Spondyloepiphyseal dysplasia tarda
  • TRAPPC2L deficiency
  • TRAPPC4 deficiency
  • TRAPPC6B deficiency
  • TRAPPC9 deficiency
  • TRAPPC11-CDG (Limb-girdle muscular dystrophy type 2S)
  • TRAPPC12 deficiency
  • GOSR2-CDG
  • VPS45 deficiency
  • Arthrogryposis-renal dysfunction-cholestasis syndrome type 2
  • TANGO2 deficiency (Metabolic encephalomyopathic crises associated with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration – MECRCN) 
  • NBAS deficiency
  • SCYL1 deficiency
  • SCYL2 deficiency
  • SCYL1-binding protein deficiency
  • Famillial hemophagocytic lymphohistiocytosis type 3
  • Famillial hemophagocytic lymphohistiocytosis type 4
  • Famillial hemophagocytic lymphohistiocytosis type 5
  • ARFGEF2 deficiency
  • AP1S2 deficiency
  • AP2S1 deficiency (Hypocalciuric hypercalcemia type 3)
  • AP3B2 deficiency (Early infantile epileptic encephalopathy type 48)
  • AP4B1 deficiency (Autosomal recessive spastic paraplegia type 47)
  • AP4E1 deficiency (Autosomal recessive spastic paraplegia type 51)
  • AP4M1 deficiency (Autosomal recessive spastic paraplegia type 50)
  • AP4S1 deficiency (Autosomal recessive spastic paraplegia type 52)
  • p34 deficiency
  • Rubicon deficiency (Autosomal recessive spinocerebellar ataxia type 15)
  • Grey platelet syndrome
  • Combined factor V and factor VIII deficiency type 1
  • Combined factor V and factor VIII deficiency type 2
  • Dymeclin deficiency (Dyggve-Melchior-Clausen syndrome, severe; Smith-McCort dysplasia, milder)
  • Carpenter syndrome
  • RAB18 deficiency (Warburg micro syndrome type 3)
  • RAB3GAP1 deficiency (Warburg micro syndrome type 1)
  • RAB3GAP2 deficiency (Warburg micro syndrome type 2; Martsolf syndrome)

4.3 Disorders of complex molecule degradation

a. Disorders of sphingolipid degradation

  • Glucocerebrosidase deficiency (Gaucher disease)
  • Atypical Gaucher disease due to saposin C deficiency
  • Acid sphingomyelinase deficiency (Niemann-Pick type A, severe; Niemann-Pick type B, milder)
  • Neutral sphingomyelinase 3 deficiency
  • Beta-galactosidase deficiency, GM1 gangliosidosis phenotype
  • Beta-hexosaminidase subunit alpha deficiency (GM2 gangliosidosis, B variant / Tay-Sachs disease)
  • Beta-hexosaminidase subunit beta deficiency (GM2 gangliosidosis, O variant / Sandhoff disease)
  • GM2 activator protein deficiency (GM2 gangliosidosis, AB variant)
  • Beta-galactosylceramidase deficiency (Globoid cell leukodystrophy; Krabbe disease)
  • Atypical Krabbe disease due to saposin A deficiency
  • Arylsulfatase A deficiency (Metachromatic leukodystrophy)
  • Metachromatic leukodystrophy due to saposin B deficiency
  • Formyl-glycine generating enzyme deficiency (Multiple sulfatase deficiency)
  • Alpha-galactosidase A deficiency (Fabry disease)
  • Acid ceramidase deficiency, inflammatory phenotype (Farber disease)
  • Acid ceramidase deficiency, primary neurologic phenotype (Farber disease)
  • Combined saposin deficiency

b. Disorders of glycosaminoglycan degradation

  • Alpha-iduronidase deficiency (Mucopolysaccharidosis type 1H, Hurler syndrome, severe; mucopolysaccharidosis type 1S, Scheie syndrome, milder)
  • Iduronate sulfatase deficiency (Mucopolysaccharidosis type 2; Hunter syndrome)
  • Heparan N-sulfatase deficiency (Mucopolysaccharidosis type 3A; Sanfilippo syndrome type A)
  • N-acetylglucosaminidase deficiency (Mucopolysaccharidosis type 3B; Sanfilippo syndrome type B)
  • Heparan-alpha-glucosaminide N-acetyltransferase deficiency (Mucopolysaccharidosis type 3C, Sanfilippo syndrome type C, severe; retinitis pigmentosa type 73, milder)
  • N-acetylglucosamine 6-sulfatase deficiency (Mucopolysaccharidosis type 3D; Sanfilippo syndrome type D)
  • N-acetylgalactosamine 6-sulfatase deficiency (Mucopolysaccharidosis type 4A; Morquio syndrome type A)
  • Beta-galactosidase deficiency, Morquio syndrome phenotype (Morquio syndrome type B)
  • N-acetylgalactosamine 4-sulfatase deficiency (Mucopolysaccharidosis type 6; Maroteaux- Lamy syndrome; arylsulfatase B deficiency)
  • Beta-glucuronidase deficiency (Mucopolysaccharidosis type 7; Sly syndrome)
  • Hyaluronidase deficiency (Mucopolysaccharidosis type 9; Natowicz syndrome)
  • Arylsulfatase G deficiency
  • Beta-xylosidase deficiency

c. Disorders of glycoprotein degradation

  • Alpha-neuraminidase deficiency (Sialidosis)
  • Cathepsin A deficiency (Galactosialidosis)
  • Alpha-mannosidase deficiency (α-mannosidosis)
  • Beta-mannosidase deficiency (β-mannosidosis)
  • Alpha-N-acetylgalactosaminidase deficiency (Schindler disease; Kanzaki disease, milder)
  • Alpha-fucosidase deficiency (α-fucosidosis)
  • Aspartylglucosaminidase deficiency (Aspartylglucosaminuria)

d. Neuronal ceroid lipofuscinosis

  • Palmitoyl-protein thioesterase 1 deficiency (CLN1 disease; Santavuori-Haltia disease)
  • Tripeptidyl-peptidase 1 deficiency (CLN2 disease, Jansky-Bielchowsky disease, severe; autosomal recessive spinocerebellar ataxia type 7, milder)
  • CLN3 disease (Vogt-Spielmeyer disease)
  • CLN4 disease (Autosomal dominant Kufs disease)
  • CLN5 disease
  • CLN6 disease (Autosomal recessive Kufs disease type A)
  • CLN7 disease (Macular dystrophy with central cone involvement, milder)
  • CLN8 disease
  • Cathepsin D deficiency (CLN10 disease)
  • Progranulin deficiency (Frontotemporal lobar degeneration with TDP-43 inclusions, dominant; CLN11 disease, recessive)
  • ATP13A2 deficiency (CLN12 disease; Kufor-Rakeb syndrome; Parkinson disease type 9; autosomal recessive spastic paraplegia type 78)
  • Cathepsin F deficiency (Autosomal recessive Kufs disease type B; CLN13 disease)
  • CLN14 disease Progressive myoclonic epilepsy type 3

e. Disorders of autophagy

  • EPG5 deficiency Vici syndrome
  • WDR45 deficiency (Neurodegeneration with brain iron accumulation type 5; static encephalopathy of childhood with neurodegeneration in adulthood, SENDA; β-propeller protein-associated neurodegeneration, BPAN)
  • SNX14 deficiency (Autosomal recessive spinocerebellar ataxia type 2)
  • Spatacsin deficiency (Autosomal recessive spastic paraplegia type 11; axonal Charcot-Marie- Tooth disease type 2X; juvenile amyotrophic lateral sclerosis type 5)
  • Spastizin deficiency (Autosomal recessive spastic paraplegia type 15; Kjellin syndrome)
  • AP5Z1 deficiency (Autosomal recessive spastic paraplegia type 48)
  • TECPR2 deficiency (Autosomal recessive spastic paraplegia type 49)
  • TBK1 deficiency (Frontotemporal dementia and/or amyotrophic lateral sclerosis type 4)
  • RAB7 deficiency (Charcot-Marie-Tooth disease type 2B)
  • ATG5 deficiency (Autosomal recessive spinocerebellar ataxia type 25)

f. Other disorders of complex molecule degradation

  • Alpha-glucosidase deficiency (Glycogen storage disease type 2; Pompe disease)
  • Lysosome-associated membrane protein 2 deficiency (Danon disease; pseudoglycogenosis type 2)
  • Glucocerebrosidase receptor deficiency (Progressive myoclonic epilepsy type 4; action myoclonus-renal failure syndrome)
  • Niemann-Pick disease type C1
  • Niemann-Pick disease type C2
  • Lysosomal acid lipase deficiency (Wolman disease, severe; cholesteryl ester storage disease, milder)
  • UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency (Mucolipidosis type 2, I-cell disease, severe; mucolipidosis type 3 alpha/beta, pseudo-Hurler polydystrophy, milder)
  • UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma deficiencY (Mucolipidosis type 3 gamma)
  • Mucolipin 1 deficiency (Mucolipidosis type 4)
  • Site-1 protease deficiency
  • Cathepsin K deficiency (Pycnodysostosis)
  • Cathepsin C deficiency (Papillon-Lefevre syndrome; Haim-Munk syndrome)
  • Cathepsin B superactivity

Hey, want to upgrade to pro plan?

18748

Upgrade Now

& get 25% off

Offer valid only for 24 hrs.

18749
Scroll to Top