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Literature summary for 3.1.2.22 extracted from

  • Takano, K.; Shimono, M.; Shiota, N.; Kato, A.; Tomioka, S.; Oka, A.; Ohno, K.; Sathou, H.
    Infantile neuronal ceroid lipofuscinosis: The first reported case in Japan diagnosed by palmitoyl-protein thioesterase enzyme activity deficiency (2008), Brain Dev., 30, 370-373.
    View publication on PubMed
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Application

Application Comment Organism
medicine if patients are diagnosed with any type of mental and/or physical retardation accompanied by strong and severe visual impairment, then the case physician may consider the possibility of infantile neuronal ceroid lipofuscinosis and conduct an examination of PPT activity level Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
lymphocyte
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4-methylumbelliferyl 6-S-palmitoyl-6-thio-beta-D-glucoside + H2O
-
 Homo sapiens 4-methylumbelliferyl 6-thio-beta-D-glucoside + palmitate
-
 ?

Synonyms

Synonyms Comment Organism
Palmitoyl-protein thioesterase
-
 Homo sapiens
PPT
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction first case of infantile neuronal ceroid lipofuscinosis in 37 month old Japanese boy diagnosed by enzyme activity deficiency of palmitoyl-protein thioesterase, displaying symptoms of severe deterioration beginning in his 14th month Homo sapiens