Here I present: “Maroteaux-Lamy Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. icd10=E76.29
INTRODUCTION.
Maroteaux–Lamy syndrome is an inherited disease caused by a deficiency in the enzyme aryl sulfase-B (ARSB). ASRB is responsible for the breakdown of large sugar molecules called glycosaminoglycans (GAGs). In particular, ARSB breaks down dermatan sulfate and chondroitin sulfate. Because people with the disorder lack the ability to break down these GAGs, these chemicals build up in the lysosomes of cells. Maroteaux–Lamy syndrome is therefore a type of lysosomal storage disease.
Maroteaux–Lamy syndrome is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase-B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal.
There is evidence is Maroteaux–Lamy syndrome caused by homozygous or compound heterozygous mutation in the ARSB gene on cytogenetic location 5q14.1 and genomic coordinates 5:78,777,209-78,985,958. The screenshot of the ARSB gene 208,750 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides ARSB in the 5q14.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:77,691,166 | TBCA | Tubulin-specific chaperone A |
| 5:78,000,522 | AP3B1 | Adaptor-related protein 3, beta 1 |
| 5:78,360,617 | SCAMP1 | Secretory carrier membrane protein 1 |
| 5:78,485,230 | LHFPL2 | LHFP tetraspan subfamily, member 2 |
| 5:78,777,209 | ARSB | Arylsulfatase B |
| 5:78,997,564 | DMGDH | Dimethylglycine dehydrogenase |
| 5:79,069,767 | BHMT2 | Betaine-homocysteine methyltransferase 2 |
| 5:79,111,809 | BHMT | Betaine-homocysteine methyltransferase |
| 5:79,236,131 | JMY | Junction-mediating and regulatory protein |
| 5:79,372,636 | HOMER1 | Homer scaffold protein 1 |
