PMID- 7573152
OWN - NLM
STAT- MEDLINE
DCOM- 19951120
LR  - 20131121
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 58
IP  - 1
DP  - 1995 Jul 31
TI  - Infantile sialic acid storage disease: biochemical studies.
PG  - 24-31
AB  - Infantile free sialic acid storage disease (ISSD), is an inherited metabolic 
      disorder characterized by hyperexcretion of free sialic acid in the urine and by 
      its storage in the lysosomes of different tissues. In order to obtain more 
      reliable data on the amount of total and free sialic acid, we analyzed the urine, 
      brain, cerebellum, liver, spleen, and kidneys from a 3-month-old baby who died 
      with a diagnosis of ISSD. The lysosomal nature of the disease was confirmed by an 
      electron microscopic study of cells in culture. No significant abnormalities were 
      found involving cholesterol, total phospholipids, glycolipids, and gangliosides 
      in the tissues examined. However, differences in the tissue distribution of 
      individual glycolipids and gangliosides were observed. The amount of free and 
      total sialic acid was markedly increased, due to the storage of free sialic acid 
      accompanied by its hyperexcretion in the urine. These results demonstrate and 
      confirm that only acid monosaccharide transport from the lysosome compartment is 
      involved in the pathogenesis of ISSD.
FAU - Berra, B
AU  - Berra B
AD  - Institute of General Physiology and Biochemistry, University of Milano, Italy.
FAU - Gornati, R
AU  - Gornati R
FAU - Rapelli, S
AU  - Rapelli S
FAU - Gatti, R
AU  - Gatti R
FAU - Mancini, G M
AU  - Mancini GM
FAU - Ciana, G
AU  - Ciana G
FAU - Bembi, B
AU  - Bembi B
LA  - eng
PT  - Case Reports
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Gangliosides)
RN  - 0 (Glycolipids)
RN  - 0 (Glycoproteins)
RN  - 0 (Membrane Lipids)
RN  - 0 (Phospholipids)
RN  - 0 (Sialic Acids)
RN  - 97C5T2UQ7J (Cholesterol)
RN  - EC 3.2.1.- (Glycoside Hydrolases)
SB  - IM
MH  - Brain Chemistry
MH  - Carbohydrate Metabolism, Inborn Errors/genetics/*metabolism
MH  - Cholesterol/analysis
MH  - Female
MH  - Fibroblasts/metabolism/ultrastructure
MH  - Gangliosides/analysis
MH  - Glycolipids/analysis
MH  - Glycoproteins/chemistry
MH  - Glycoside Hydrolases/metabolism
MH  - Humans
MH  - Infant, Newborn
MH  - Infant, Premature
MH  - Kidney/chemistry
MH  - Liver/chemistry
MH  - Lysosomal Storage Diseases/*metabolism
MH  - Lysosomes/enzymology/ultrastructure
MH  - Membrane Lipids/analysis
MH  - Microscopy, Electron
MH  - Phospholipids/analysis
MH  - Reference Values
MH  - Sialic Acids/analysis/*metabolism
MH  - Spleen/chemistry
EDAT- 1995/07/31 00:00
MHDA- 1995/07/31 00:01
CRDT- 1995/07/31 00:00
PHST- 1995/07/31 00:00 [pubmed]
PHST- 1995/07/31 00:01 [medline]
PHST- 1995/07/31 00:00 [entrez]
AID - 10.1002/ajmg.1320580107 [doi]
PST - ppublish
SO  - Am J Med Genet. 1995 Jul 31;58(1):24-31. doi: 10.1002/ajmg.1320580107.