摘要:

SummaryAbnormalities of tyrosine metabolism have been reported in infants and children with a variety of liver diseases. Especially infants with hereditary fructose intolerance show often the very similar picture of clinical symptoms with congenital tyrosinemia.The livers of the patients, two cases of congenital tyrosinemia type 1 and three cases of hereditary fructose intolerance, were studied biochemically and compared to normal control livers. Kinetic studies of p‐hydroxyphenylpyruvate oxidase revealed that crude extract of livers from patients with congenital tyrosinemia were distinctively inhibited by substrate in low concentration. It is suggested that this kinetic abnormality is closely related to the fundamental defect of congenital tyrosinemia.Activity of p‐hydroxyphenylpyruvate oxidase was noted in peripheral leucocytes. The patient showed a reduced activity as low as 20% of normal. Enzyme assay in leucocytes might be useful in making the definite diagnosis prior to starting correct diagnosis for tyrosinemic st

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1981.tb01250.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SummaryThe lack of 5‐CH3‐H4PteGlu was demonstrated in serum, red cells, liver and brain in a 9‐month‐old patient with nearly complete absence of 5, 10‐CH2‐H4PteGlu reductase activity. Folates were undetectable in the cerebrospinal fluid and were markedly deficient in brain tissue even after folic acid therapy.Her clinical features were characterized by fits of apnea, generalized convulsions and severe mental retardation, It is assumed that folate deficiency in the growing brain, due to the inability to produce 5‐CH3‐H4PteGlu in tissues, is related to the severe brain damage as observed in clinical and histologic

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1981.tb01251.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SummarySialidosis is characterized by the Hurler‐like clinical pictures, progressive neurodegenerative course and an increase in sialic acid‐rich saccharides in urine. However, it looks a heterogenous category consisted of several clinical disorders. Recently it has been established that acid neuraminidase is deficient primarily in this disease. We reviewed sialidosis and discussed biochemical characteristics including coexisting β‐galactosidase abnor

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1981.tb01252.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1981.tb01253.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SummaryA new case of Japanese patient with Multiple Sulfatase Deficiency (MSD) was subjected for the study of metabolism of various sulfated compoundsin vivousing cultured skin fibroblasts. Several sulfatase activities (arylsulfatase A, B and C, cholesterol sulfatase) were deficient in MSD cultured fibroblasts under F‐10‐CO2medium. Incorporation and degradation of35S‐sulfatide,35S‐mucopolysaccharides and14C‐cholesterol sulfate by MSD cells were also studied, comparing to those of control, Hunter and Metachromatic leukodytrophy's cells. MSD fibroblasts accumulated and failed to degrade these compoundsin vivo. Cholesterol sulfate also incorporated into control and pathological cells, and MSD cells were not able to hydrolyze cholesterol sulfate, though cholesterol sulfate is known to be hydrolyzed in non‐lysosomal subfraction. These data are consistent with the foct that multiple enzyme deficiencies in MSD fibroblasts were also demonstr

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1981.tb01254.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SummaryClinical manifestations of Wilson's disease in childhood were analyzed according to age groups. Hepatic symptoms were predominant in patients under the age of 10, and cerebral symptoms became predominant thereafter. Kayser‐Fleischer rings gradually appeared after 5 years. Tremor, hematemesis from esophageal varices, and epileptic seizures were not observed under the age of 10. Acute onset of hepatic failure associated with severe hemolytic crisis is the most dangerous course of the disease. Characteristically, remarkable hypercupremia, hypercupruria, increased serum direct bilirubin, rapidly progressive anemia with reticulocytosis and high S‐GOT levels preceeded hepatic coma and ascites. Exchange transfusion as well as early start of penicillamine therapy could induce complete recovery. Experimental studies indicated a marked inhibitory effect of histidine, SH containing amino acids, human plasma as well as penicillamine on copper‐induced hemolysis. hemo

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1981.tb01255.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1981.tb01256.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SummaryCopper deficiency in human is uncommon. We described a 7‐month‐old Japanese infant who developed copper deficiency while being fed milk formula alone, and exhibited neutropenia, sideroblastic anemia and bone changes resembling scurvy and osteoporosis.We treated her with oral copper solution. Within 7 days of treatment, neutrophils and reticulocyte counts remarkably increased. Anemia was corrected by 2 weeks after initiation of copper therapy. Bone radiography showed remarkable improvement, and the maturation arrest and cytoplasmic vacuoles in the early myeloid and erythroid series on the bone marrow examination had disappeared after copper therapy. The plasma and erythrocyte copper concentrations, and serum ceruloplasmin levels returned rapidly to normal range. The patient has been doing well after discontinuing copper supplements.Although there has been no report of copper deficiency in Japanese infants nourished with milk formula alone, marginal copper deficiency, which escapes clinical recognition and is spontaneously cured when solid foods are added, may not be so uncommon in Japan. The recommended daily intake of copper cannot be achieved, if a Japanese infant, especially a premature baby, is nourished with milk formula alone. Therefore, Japanese milk formula must be !supplemented with cop

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1981.tb01257.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SummaryA young girl with perinatal history of breech presentation and Caesarian section delivery exhibited symptoms of diabetes insipidus and marked shortness of stature. Possibility of anti‐diuretic hormone and growth hormone deficiencies was ruled out completely by extensive endocrinological studies, which instead demonstrated the existence of nephrogenic diabetes insipidus (NDI) in this patient. Turner's syndrome was denied by normal female karyotype. Her dwarfism could not be explained by other causes than NDI. Review of the literature, however, shows that combination of NDI and dwarfism is extremely rare condition in a female case of the diseas

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1981.tb01258.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1981.tb01259.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY