PMID- 8127074
OWN - NLM
STAT- MEDLINE
DCOM- 19940411
LR  - 20190830
IS  - 0141-8955 (Print)
IS  - 0141-8955 (Linking)
VI  - 16
IP  - 6
DP  - 1993
TI  - Carbonic anhydrase II deficiency in three unrelated Japanese patients.
PG  - 982-90
AB  - Three Japanese patients with carbonic anhydrase II (CAII) deficiency from three 
      families were described. The parents of one patient were unrelated, the parents 
      of each of the other two patients were first cousins. All the patients had renal 
      tubular acidosis, osteopetrosis, symmetrical cerebral calcification and mental 
      retardation. They exhibited poor activity and poor appetite in the neonatal 
      period, and then developed psychomotor retardation. Two of them were diagnosed as 
      having osteopetrosis at 10 months and 36 years of age, respectively, and the 
      other as having osteomalacia at 28 years of age. All patients had recurrent 
      episodes of muscle weakness. The CAII enzyme activity and protein levels in red 
      blood cells in each of the three patients were deficient. Their parents exhibited 
      approximately 50% normal levels of CAII activity and protein. This is the first 
      report of patients with CAII deficiency in the Japanese population.
FAU - Aramaki, S
AU  - Aramaki S
AD  - Department of Pediatrics and Child Health, Kurume University School of Medicine, 
      Japan.
FAU - Yoshida, I
AU  - Yoshida I
FAU - Yoshino, M
AU  - Yoshino M
FAU - Kondo, M
AU  - Kondo M
FAU - Sato, Y
AU  - Sato Y
FAU - Noda, K
AU  - Noda K
FAU - Jo, R
AU  - Jo R
FAU - Okue, A
AU  - Okue A
FAU - Sai, N
AU  - Sai N
FAU - Yamashita, F
AU  - Yamashita F
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - J Inherit Metab Dis
JT  - Journal of inherited metabolic disease
JID - 7910918
RN  - 0 (Isoenzymes)
RN  - EC 4.2.1.1 (Carbonic Anhydrases)
SB  - IM
MH  - Acidosis, Renal Tubular/enzymology/genetics
MH  - Adolescent
MH  - Adult
MH  - Carbonic Anhydrases/blood/*deficiency
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - Humans
MH  - Intellectual Disability/enzymology/genetics
MH  - Isoenzymes/blood/*deficiency
MH  - Japan
MH  - Male
MH  - Osteopetrosis/enzymology/genetics
MH  - Pedigree
EDAT- 1993/01/01 00:00
MHDA- 1993/01/01 00:01
CRDT- 1993/01/01 00:00
PHST- 1993/01/01 00:00 [pubmed]
PHST- 1993/01/01 00:01 [medline]
PHST- 1993/01/01 00:00 [entrez]
AID - 10.1007/BF00711514 [doi]
PST - ppublish
SO  - J Inherit Metab Dis. 1993;16(6):982-90. doi: 10.1007/BF00711514.