Mucolipidoses |
ML I (cherry-red spot myoclonus, CRSM syndrome) | Neuraminidase (sialidase, NEU1; EC 3.2.1.18) | AX, CF (mild), CRS, D, DM (mild), H, HSM, CVD, JS, MC, MR, SS | Sialylated oligos | AR (OMIM 256550), Ch 6p21.3, Mns: no common mutations | Palliative care only | Patients die in infancy, CRSM syndrome, survival into adult
life normal |
ML II (I cell disease) | N-acetylglucosamine 1-phosphotransferase (EC 2.7.8.17) | C, CF, CC, UAO, D, DM, GH, H, HSM, CVD, JS,
MR, SS | Multiple | AR (OMIM 252500), GNPTAB gene,
Ch 12q23.3 (conflicting assignment to 4q), no common mutations | Palliative | Death in infancy or early childhood |
HSCT has been tried with limited success |
ML IIIA (pseudo-Hurler polydystrophy) | N-acetylglucosamine 1-phosphotransferase (EC 2.7.8.17) | CVD, H, JS, CTS, MR (mild), DM, OP | Multiple | AR (OMIM 252600), GNPTAB gene, Ch 12q23.3
(conflicting assignment to 4q), no common mutations | Bisphosphonate for OP | Survival into middle age and beyond |
ML IIIC (pseudo-Hurler polydystrophy) | N-acetylglucosamine 1-phosphotransferase (EC 2.7.8.17), gamma subunit | CVD, H, JS, CTS, MR (mild), DM, OP | Multiple | AR (OMIM 252605), GNPTAG gene gamma subunit,
Ch 16p, no common mutations | Bisphosphonate for OP | Survival into middle age and beyond |
ML IV | Mucolipin 1 (transient receptor potential ion channel prevents
lysosome from becoming too acidic) | MR, CC, achlorhydria with raised gastrin levels | PhL, SPh, GAGs | AR (OMIM 252650), Ch 9p13.3-13.2, MCOLN1 gene, Ashkenazi
mns: IVS3-2A>G and 511>6944del | Palliative care only | Most affected patients survive into adult age |
Glycoproteinoses |
α-Mannosidosis | α-Mannosidase | CF, CVD, D, DD, DM, HSM, ID, MR, PY | Mannose-rich oligos | AR (OMIM 248500), Ch 19cen.q12, no common mutations | HSCT | Most affected patients survive into adult
age |
MAN2B1 (EC 3.2.1.24) |
β-Mannosidosis | α-Mannosidase | CB, D, Da, DD, ES, AnG, MR | Mannose-rich oligos | AR (OMIM 248510), Ch 4q22-q25, very few patients
studied | Palliative care only | Some affected patients have survived into
middle age |
MANBA (EC 3.2.1.25) |
Fucosidosis | α-Fucosidase | DD, D, Da, AnG, MR, DM (mild), HSM | Fucosyl-rich oligos | AR (OMIM 230000), Ch 1p34, no common mutations | Palliative care only | Severe patients die in infancy |
FUCA (EC 3.2.1.51) |
Schindler disease | α-N-Acetylgalactosaminidase | DD, D, Da, AnG, MC, NAX | Raised oligos undefined | AR (OMIM 609241), Ch 22q11, no common mutations | Palliative care only | Death in second decade |
NAGA (EC 3.2.1.49) |
Aspartylglucosaminuria | Aspartylglucosaminidase | CF, DD, Da, Dr, DM (mild), MR | Aspartylglucosamine | AR (OMIM 208400), Ch 4q32-q33, p.C163S common
Finnish mutation | HSCT | Survive into middle age |
AGU (EC 3.5.1.26) |
GM1 Gangliosidosis
(see also Morquio B, Table 160-1) |
Infantile GM1 gangliosidosis | β-Galactosidase GLB 1 (EC 3.2.1.23) | C, CF, CC, CRS, UAO, D, DM, H, HF, HSM, CVD, JS, MR | Galactose-rich oligos ± KS | AR (OMIM 230500), Ch 3p21.33, no common mutations | Palliative care only | Death in infancy |
Juvenile GM1 gangliosidosis | β-Galactosidase GLB 1 (EC 3.2.1.23) | DD, Da, ES | Galactose-rich oligos ± KS | AR (OMIM 230500), Ch 3p21.33, no common mutations | Palliative care only | Death in second decade |
Adult GM1 gangliosidosis | β-Galactosidase GLB 1 (EC 3.2.1.23) | AX, DYS, exPY | Galactose-rich oligos ± KS | AR (OMIM 230500), Ch 3p21.33, no common mutations | L-DOPA, Baclofen, Artane | Most patients survive into middle age |
Galactosialidosis (sialidosis type II) | Cathepsin A protective protein | AnG, CC, CF, CVD, D, CRS, DD, DM, HF, HSM | Sialyl oligos | AR (OMIM 256540), Ch 20q13.1, population-specific
(Japan) mutations have been reported | Palliative care only | Variable severe patients die in infancy but
survival into middle age can occur |
PPCA (EC 3.4.16.5) |
Multiple sulfatase deficiency | Sulfatase-modifying factor-1 gene | CF, Da, DM, ES, ICH, LD, PN, | GAGs | AR (OMIM 272200), Ch 3p26, no common mutations | Palliative care only | Most patients die in infancy (< 5 years) |
SUMF1 |
Sialic Acid Transporter Defect |
Infantile sialic acid storage disease (ISSD) | Deficiency of SIALIN, a sialic acid membrane transporter
due to defects in SLC17A5 gene | C, CF, CC, UAO, D, DM, H, HF, HSM, CVD, JS, MR, SS | Sialic acid | AR (OMIM 269920), Ch 6q14-q15, no common mutations | Palliative care only | Most patients die in infancy (< 3 years) |
Salla disease | Deficiency of SIALIN, a sialic acid membrane transporter
due to defects in SLC17A5 gene | CF, HY, AX, NYS, MR | Sialic acid | AR (OMIM 269920), Ch 6q14-q15, p.R39C mutation responsible
for Finnish disease | Palliative care only | Can survive into middle age |