Three siblings with nonketotic hyperglycinaemia, mildly elevated plasma homocysteine concentrations and moderate methylmalonic aciduria

Journal of Inherited Metabolic Disease

Volumn 23, Issue 5, 2000, Pages 520-522

  Randak, C ^a   Roschinger W ^a   Rolinski, B ^a   Hadorn, H B ^a   Applegarth, D A ^b,c   Roscher, A A ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c BC CHILDREN S HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

BENZOIC ACID; CARBAMAZEPINE; CREATININE; CYANOCOBALAMIN; DEXTROMETHORPHAN; FOLIC ACID; FOLINIC ACID; GLYCINE; GLYCINE CLEAVAGE SYSTEM; HOMOCYSTEINE; HYDRACRYLIC ACID; LIVER ENZYME; METHYLMALONIC ACID; METHYLMALONYL COENZYME A MUTASE; PROPIONYL COENZYME A; PYRIDOXAL 5 PHOSPHATE; VIGABATRIN;

AMINO ACID ANALYSIS; ARAB; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBROSPINAL FLUID EXAMINATION; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; CONVULSION; ENZYME ACTIVITY; FEMALE; HUMAN; HYPERGLYCINEMIA; KETOACIDOSIS; MALE; MENTAL DEFICIENCY; METHYLMALONIC ACIDURIA; NEWBORN; PSYCHOMOTOR DISORDER; SIBLING;

CHILD; CONSANGUINITY; FEMALE; HOMOCYSTEINE; HUMANS; HYPERGLYCINEMIA, NONKETOTIC; INFANT; INFANT, NEWBORN; LEUCOVORIN; MALE; METHYLMALONIC ACID; NUCLEAR FAMILY;

EID: 0033913983     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005667707355     Document Type: Article

References (6)

1. Acute neonatal nonketotic hyperglycinemia: Normal propionate and methylmalonate metabolism
2. Nonketotic hyperglycinemia with increased propionic acid excretion and hyperammonemia
3. Nonketotic hyperglycinemia
4. Effects of the metabolites of the branched-chain amino acids and cysteamine on the glycine cleavage system
5. Nonketotic hyperglycinemia. Glycine accumulation due to absence of glycine cleavage in brain
6. One-methyl group metabolism in non-ketotic hyperglycinaemia: Mildly elevated cerebrospinal fluid homocysteine levels