1.
Helv Paediatr Acta
; 32(4-5): 401-11, 1977 Nov.
Article
in English
| MEDLINE
| ID: mdl-617985
ABSTRACT
Histidinemia was found in 3 of 4 siblings in one family, while a fatal encephalopathy with mental retardation was present in two of them and in the fourth child who did not have histidinemia. Biochemical studies of the histidinemic subjects showed elevated histidine levels in urine, CSF, and brain, while in a few urine samples histidine related imidazole compounds were found. Plasma levels of other amino acids were positively correlated with plasma histidine levels. Obesity and heart abnormalities appeared to be associated with the encephalopathy, which is probably of a new type. The histidinemia appears to be unrelated to the mental retardation or the encephalopathy in this family.
Subject(s)
Amino Acid Metabolism, Inborn Errors/genetics , Brain Diseases/genetics , Histidine/blood , Amino Acids/blood , Brain/metabolism , Brain Diseases/metabolism , Child , Child, Preschool , Female , Heart Defects, Congenital/genetics , Histidine/cerebrospinal fluid , Histidine/urine , Humans , Imidazoles/urine , Infant , Infant, Newborn , Intellectual Disability/genetics , Intellectual Disability/metabolism , Male , Obesity/genetics
2.
Am J Clin Nutr
; 26(6): 620-30, 1973 Jun.
Article
in English
| MEDLINE
| ID: mdl-4196570
Subject(s)
Growth , Macaca/growth & development , Nutrition Disorders/physiopathology , Organ Size , Age Factors , Animal Nutritional Physiological Phenomena , Animals , Aspartate Aminotransferases/blood , Bilirubin/blood , Blood Glucose/metabolism , Blood Proteins/metabolism , Blood Urea Nitrogen , Body Height , Body Weight , Cephalometry , Cholesterol/blood , Dietary Proteins , Forelimb/growth & development , Haplorhini , Hindlimb/growth & development , Protein Deficiency/physiopathology , Serum Albumin/metabolism , Skull/growth & development , Time Factors , Uric Acid/blood
3.
Aust N Z J Med
; 3(2): 169-73, 1973 Apr.
Article
in English
| MEDLINE
| ID: mdl-4197702
Subject(s)
Alanine/therapeutic use , Phenylalanine/antagonists & inhibitors , Thiophenes/therapeutic use , Alanine/blood , Alanine/pharmacology , Animals , Animals, Newborn , Body Height/drug effects , Body Weight/drug effects , Brain/pathology , Cephalometry , Depression, Chemical , Feeding Behavior/drug effects , Haplorhini , Humans , Macaca , Phenylalanine/blood , Phenylalanine/poisoning , Phenylketonurias/drug therapy , Thiophenes/blood , Thiophenes/pharmacology , Tyrosine/blood
4.
Growth
; 37(1): 41-54, 1973 Mar.
Article
in English
| MEDLINE
| ID: mdl-4633665
Subject(s)
Brain Chemistry , Brain/growth & development , Embryonic and Fetal Development , Lipids/analysis , Macaca/growth & development , Age Factors , Animal Nutritional Physiological Phenomena , Animals , Animals, Newborn , Cerebrosides/analysis , Cholesterol/analysis , Female , Gangliosides/analysis , Gestational Age , Glycogen/analysis , Haplorhini , Nerve Tissue Proteins/analysis , Organ Size , Phosphatidylcholines/analysis , Phosphatidylethanolamines/analysis , Pregnancy , Sphingomyelins/analysis
5.
Clin Chim Acta
; 44(2): 183-92, 1973 Mar 14.
Article
in English
| MEDLINE
| ID: mdl-4699626
Subject(s)
Contraceptives, Oral/pharmacology , Obesity/metabolism , Phenylketonurias/genetics , Adult , Fasting , Female , Heterozygote , Humans , Menstruation , Middle Aged , Obesity/blood , Ovulation , Phenylalanine/blood , Phenylketonurias/blood , Pregnancy , Temperature , Time Factors , Tyrosine/blood
6.
Biochem Pharmacol
; 22(2): 267-71, 1973 Jan 15.
Article
in English
| MEDLINE
| ID: mdl-4763254
Subject(s)
Brain Chemistry , Microcephaly/metabolism , Aging , Animals , Azo Compounds , Brain/enzymology , Carboxy-Lyases/metabolism , DNA/analysis , Female , Galactosidases/metabolism , Gestational Age , Glutamates , Isoenzymes , L-Lactate Dehydrogenase/analysis , L-Lactate Dehydrogenase/metabolism , Male , Methanol , Microcephaly/chemical synthesis , Microcephaly/enzymology , Nerve Tissue Proteins/analysis , Organ Size , Pregnancy , RNA/analysis , Rats , Sex Factors
7.
Clin Pediatr (Phila)
; 11(6): 360-3, 1972 Jun.
Article
in English
| MEDLINE
| ID: mdl-5032163
8.
Teratology
; 5(2): 223-32, 1972 Apr.
Article
in English
| MEDLINE
| ID: mdl-5063372
Subject(s)
Abnormalities, Drug-Induced , Azo Compounds/toxicity , Growth Disorders/chemically induced , Microcephaly/chemically induced , Animals , Birth Weight , Brain/anatomy & histology , Female , Gestational Age , Kidney/anatomy & histology , Liver/anatomy & histology , Male , Methanol/toxicity , Microcephaly/pathology , Pregnancy , Rats , Rats, Inbred Strains , Spleen/anatomy & histology , Testis/anatomy & histology , Time Factors
9.
Growth
; 36(1): 59-76, 1972 Mar.
Article
in English
| MEDLINE
| ID: mdl-4622990
Subject(s)
Bone Development , Embryonic and Fetal Development , Haplorhini/embryology , Animals , Arm/growth & development , Epiphyses/growth & development , Female , Gestational Age , Leg/growth & development , Macaca/embryology , Macaca/growth & development , Osteogenesis , Pregnancy , Radiography , Skull/diagnostic imaging , Skull/growth & development
10.
J Am Diet Assoc
; 59(4): 342-6, 1971 Oct.
Article
in English
| MEDLINE
| ID: mdl-5095277
Subject(s)
Diet Therapy , Infant, Newborn, Diseases/therapy , Leucine , Maple Syrup Urine Disease/therapy , Amino Acids/analysis , Amino Acids/blood , Chemical Phenomena , Chemistry , Diet , Female , Food Analysis , Growth , Humans , Infant Food , Infant, Newborn , Isoleucine/metabolism , Keto Acids , Leucine/analysis , Leucine/metabolism , Methods , Phenylalanine/analysis , Time Factors , Valine/metabolism
11.
Pediatrics
; 48(3): 401-10, 1971 Sep.
Article
in English
| MEDLINE
| ID: mdl-5094341
12.
Am J Clin Nutr
; 24(4): 423-31, 1971 Apr.
Article
in English
| MEDLINE
| ID: mdl-5090630
Subject(s)
Child Development , Phenylalanine/therapeutic use , Phenylketonurias/therapy , Age Factors , Aging , Body Height , Body Weight , Cephalometry , Child , Child, Preschool , Diet Therapy , Dietary Proteins , Humans , Infant , Intelligence Tests , Nutritional Requirements , Phenylalanine/blood , Phenylketonurias/diagnosis
13.
J Pediatr
; 78(3): 474-80, 1971 Mar.
Article
in English
| MEDLINE
| ID: mdl-5101444
Subject(s)
Amino Acid Metabolism, Inborn Errors/urine , Amino Acids/urine , Renal Aminoacidurias , Adolescent , Adult , Age Factors , Body Weight , Child , Child, Preschool , Diet Therapy , Humans
14.
Proc Soc Exp Biol Med
; 136(3): 790-3, 1971 Mar.
Article
in English
| MEDLINE
| ID: mdl-5103044
Subject(s)
Fetus/metabolism , Maternal-Fetal Exchange , Phenylalanine/metabolism , Placenta/metabolism , Animals , Diet Therapy , Fasting , Female , Humans , Intellectual Disability/prevention & control , Phenylalanine/blood , Phenylketonurias/prevention & control , Pregnancy , Pregnancy Complications/prevention & control , Rats
15.
Proc Soc Exp Biol Med
; 135(3): 859-63, 1970 Dec.
Article
in English
| MEDLINE
| ID: mdl-4992082
Subject(s)
Intestinal Absorption , Phenylalanine/antagonists & inhibitors , Alanine/chemical synthesis , Alanine/pharmacology , Animals , Diet , Haplorhini , Leucine/chemical synthesis , Leucine/pharmacology , Male , Phenylalanine/administration & dosage , Phenylalanine/chemical synthesis , Phenylalanine/metabolism , Phenylalanine/urine , Tryptophan/blood , Tyrosine/blood
16.
Proc Soc Exp Biol Med
; 134(4): 1061-4, 1970 Sep.
Article
in English
| MEDLINE
| ID: mdl-4989758
17.
J Abnorm Psychol
; 76(1): 62-8, 1970 Aug.
Article
in English
| MEDLINE
| ID: mdl-4991571
18.
Am J Clin Nutr
; 23(6): 739-48, 1970 Jun.
Article
in English
| MEDLINE
| ID: mdl-4988143
Subject(s)
Haplorhini/growth & development , Nutrition Disorders/metabolism , Animals , Body Height , Body Weight , Diet , Growth , Liver/pathology , Mortality , Organ Size
19.
Wis Med J
; 69(6): 160-2, 1970 Jun.
Article
in English
| MEDLINE
| ID: mdl-5427823
20.
J Neurochem
; 17(4): 469-74, 1970 Apr.
Article
in English
| MEDLINE
| ID: mdl-5462642