Neurometabolic disorder due to serine deficiency

MONDO:0018162

Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.

Also known as: neurometabolic disorder due to serine deficiency, serine deficiency

1 clinical trial for this condition and its sub-types, 0 tagged with Neurometabolic disorder due to serine deficiency itself.

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Where it sits in the disease tree

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↑ Inborn disorder of serine family metabolism (1) ↑ Inborn serine deficiency (1)

Sub-types of Neurometabolic disorder due to serine deficiency

3-phosphoglycerate dehydrogenase deficiency 1 trial
2 sub-types
- Neu-Laxova syndrome 0 trials Sub-types →
- PHGDH deficiency 0 trials
PSAT deficiency 0 trials
PSPH deficiency 0 trials
Serine biosynthesis pathway deficiency, infantile/juvenile form 0 trials
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 0 trials

Most studied deeper sub-types

Neu-Laxova syndrome 1 (0) Neu-Laxova syndrome 2 (0) Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency (0)

Including sub-types (1) Tagged with Neurometabolic disorder due to serine deficiency (0)

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

Neurometabolic disorder due to serine deficiency

Where it sits in the disease tree

Most studied deeper sub-types

Newborn screening study aims to catch rare diseases at birth