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3-phosphoglycerate dehydrogenase deficiency

MONDO:0018491

1 clinical trial for this condition and its sub-types, 1 tagged with 3-phosphoglycerate dehydrogenase deficiency itself.

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Where it sits in the disease tree

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Part of

↑ Neurometabolic disorder due to serine deficiency (1)

Sub-types of 3-phosphoglycerate dehydrogenase deficiency

Neu-Laxova syndrome 0 trials
3 sub-types
- Neu-Laxova syndrome 1 0 trials
- Neu-Laxova syndrome 2 0 trials
- Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency 0 trials
PHGDH deficiency 0 trials

Including sub-types (1) Tagged with 3-phosphoglycerate dehydrogenase deficiency (1)

Not yet finished but already full! 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC