6533b871fe1ef96bd12d11de
RESEARCH PRODUCT
Sarcosinaemia in a retarded, amaurotic child.
A. C. SewellM. KrilleI. Wilhelmsubject
medicine.medical_specialtySarcosinebusiness.industryGlycineInfantSarcosineUrineBlindnessAmino acid excretionElevated serumchemistry.chemical_compoundAmino acid analysisEndocrinologychemistryInternal medicineIntellectual DisabilityPediatrics Perinatology and Child HealthGlycineMedicineSarcosinaemiaHumansFemaleMotor retardationbusinessAmino Acid Metabolism Inborn Errorsdescription
A 9-month-old Turkish girl demonstrated an abnormal qualitative amino acid excretion pattern suggestive of sarcosinaemia. She was blind and had evidence of developmental and motor retardation. No other physical abnormalities were noted. Quantitative amino acid analysis revealed elevated serum and urine sarcosine levels. An oral sarcosine loading test showed an exaggerated response with a delayed conversion to glycine. Sarcosine was undetected in other family members.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1986-02-01 | European journal of pediatrics |