PMID- 33505859
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231110
IS  - 2214-4269 (Print)
IS  - 2214-4269 (Electronic)
IS  - 2214-4269 (Linking)
VI  - 26
DP  - 2021 Mar
TI  - Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis 
      type II?
PG  - 100704
LID - 10.1016/j.ymgmr.2020.100704 [doi]
LID - 100704
AB  - BACKGROUND: Mucolipidosis type II (MLII) is an ultra-rare lysosomal storage 
      disorder caused by defective lysosomal enzyme trafficking. Clinical hallmarks are 
      craniofacial dysmorphia, cardiorespiratory dysfunction, hepatosplenomegaly, 
      skeletal deformities and neurocognitive retardation. Death usually occurs in the 
      first decade of life and no cure exists. Hematopoietic stem cell transplantation 
      (HSCT) has been performed in few MLII patients, but comprehensive follow-up data 
      are extremely scarce. METHODS: MLII diagnosis was confirmed in a female 
      three-month-old patient with the mutations c.2213C > A and c.2220_2221dup in the 
      GNPTAB gene. At nine months of age, the patient received HSCT from a 9/10 human 
      leukocyte antigen (HLA)-matched unrelated donor. RESULTS: HSCT resulted in a 
      sustained reduction of lysosomal storage und bone metabolism markers. At six 
      years of age, the patient showed normal cardiac function, partial respiratory 
      insufficiency and moderate hepatomegaly, whereas skeletal manifestations had 
      progressed. However, the patient could walk and maintained an overall good 
      quality of life. Neurocognitive testing revealed a developmental quotient of 36%. 
      The patient died at 6.6 years of age following a human metapneumovirus (hMPV) 
      pneumonia. CONCLUSIONS: The exact benefit remains unclear as current literature 
      vastly lacks comparable data on MLII natural history patients. In order to 
      evaluate experimental therapies, in-depth prospective studies and registries of 
      untreated MLII patients are indispensable.
CI  - (c) 2021 The Authors.
FAU - Ammer, Luise Sophie
AU  - Ammer LS
AD  - Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, 
      Germany.
AD  - International Center for Lysosomal Disorders (ICLD), University Medical Center 
      Hamburg-Eppendorf, Hamburg, Germany.
FAU - Pohl, Sandra
AU  - Pohl S
AD  - International Center for Lysosomal Disorders (ICLD), University Medical Center 
      Hamburg-Eppendorf, Hamburg, Germany.
AD  - Department of Osteology and Biomechanics, University Medical Center 
      Hamburg-Eppendorf, Hamburg, Germany.
FAU - Breyer, Sandra Rafaela
AU  - Breyer SR
AD  - International Center for Lysosomal Disorders (ICLD), University Medical Center 
      Hamburg-Eppendorf, Hamburg, Germany.
AD  - Department of Pediatric Orthopedics, Children's Hospital Altona, Hamburg, 
      Germany.
AD  - Department of Orthopedics, University Medical Center Hamburg-Eppendorf, Hamburg, 
      Germany.
FAU - Aries, Charlotte
AU  - Aries C
AD  - Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, 
      Germany.
AD  - International Center for Lysosomal Disorders (ICLD), University Medical Center 
      Hamburg-Eppendorf, Hamburg, Germany.
FAU - Denecke, Jonas
AU  - Denecke J
AD  - Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, 
      Germany.
FAU - Perez, Anna
AU  - Perez A
AD  - Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, 
      Germany.
AD  - International Center for Lysosomal Disorders (ICLD), University Medical Center 
      Hamburg-Eppendorf, Hamburg, Germany.
FAU - Petzoldt, Martin
AU  - Petzoldt M
AD  - Department of Anesthesiology, University Medical Center Hamburg-Eppendorf, 
      Hamburg, Germany.
FAU - Schrum, Johanna
AU  - Schrum J
AD  - Division of Pediatric Stem Cell Transplantation and Immunology, University 
      Medical Center Hamburg-Eppendorf, Hamburg, Germany.
FAU - Muller, Ingo
AU  - Muller I
AD  - Division of Pediatric Stem Cell Transplantation and Immunology, University 
      Medical Center Hamburg-Eppendorf, Hamburg, Germany.
FAU - Muschol, Nicole Maria
AU  - Muschol NM
AD  - Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, 
      Germany.
AD  - International Center for Lysosomal Disorders (ICLD), University Medical Center 
      Hamburg-Eppendorf, Hamburg, Germany.
LA  - eng
PT  - Journal Article
DEP - 20210114
PL  - United States
TA  - Mol Genet Metab Rep
JT  - Molecular genetics and metabolism reports
JID - 101624422
PMC - PMC7815485
OTO - NOTNLM
OT  - Bone marrow cell transplantation
OT  - Cognitive function
OT  - Hematopoietic stem cell transplantation
OT  - I-cell disease
OT  - Life quality
OT  - Lysosomal storage disorder
OT  - Mucolipidosis type II
OT  - Treatment
COIS- The authors declare no conflict of interest.
EDAT- 2021/01/29 06:00
MHDA- 2021/01/29 06:01
PMCR- 2021/01/14
CRDT- 2021/01/28 05:43
PHST- 2020/11/16 00:00 [received]
PHST- 2020/12/30 00:00 [revised]
PHST- 2020/12/30 00:00 [accepted]
PHST- 2021/01/28 05:43 [entrez]
PHST- 2021/01/29 06:00 [pubmed]
PHST- 2021/01/29 06:01 [medline]
PHST- 2021/01/14 00:00 [pmc-release]
AID - S2214-4269(20)30150-6 [pii]
AID - 100704 [pii]
AID - 10.1016/j.ymgmr.2020.100704 [doi]
PST - epublish
SO  - Mol Genet Metab Rep. 2021 Jan 14;26:100704. doi: 10.1016/j.ymgmr.2020.100704. 
      eCollection 2021 Mar.