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Elevated urinary sulfatide level

MedGen UID:
1053367
Concept ID:
CN376629
Finding
HPO: HP:6000120

Definition

The amount of sulfatides in the urine, normalized for urine concentration, is above the upper limit of normal. Sulfatides are derived from GalCer via esterification of a sulfate group to 3-hydroxyl of the galactose moiety. [from HPO]

Term Hierarchy

Conditions with this feature

GTP cyclohydrolase I deficiency with hyperphenylalaninemia
MedGen UID:
988270
Concept ID:
CN305333
Disease or Syndrome
GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.

Recent clinical studies

Diagnosis

Zhang J, Gan J, Wang J
BMC Pediatr 2024 Jun 26;24(1):414. doi: 10.1186/s12887-023-04287-5. PMID: 38926645Free PMC Article

Therapy

Zhang J, Gan J, Wang J
BMC Pediatr 2024 Jun 26;24(1):414. doi: 10.1186/s12887-023-04287-5. PMID: 38926645Free PMC Article

Prognosis

Zhang J, Gan J, Wang J
BMC Pediatr 2024 Jun 26;24(1):414. doi: 10.1186/s12887-023-04287-5. PMID: 38926645Free PMC Article

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