Inborn serine deficiency

MONDO:0000421

An inherited metabolic disease that is has its basis in the disruption of L-serine biosynthetic process.

Also known as: inborn L-serine biosynthetic process disorder, inborn error of L-serine biosynthetic process, rare inborn error of L-serine biosynthetic process

1 clinical trial for this condition and its sub-types, 0 tagged with Inborn serine deficiency itself.

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Where it sits in the disease tree

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Part of

↑ Inborn disorder of amino acid metabolism (159) ↑ Disorder of organic acid metabolism (154)

Sub-types of Inborn serine deficiency

Neurometabolic disorder due to serine deficiency 0 trials · 1 incl. sub-types
5 sub-types
- 3-phosphoglycerate dehydrogenase deficiency 1 trial Sub-types →
- 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 (0) Neu-Laxova syndrome 1 (0) Neu-Laxova syndrome 2 (0) Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency (0) PHGDH deficiency (0)

Including sub-types (1) Tagged with Inborn 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

Inborn serine deficiency

Where it sits in the disease tree

Most studied deeper sub-types

Newborn screening study aims to catch rare diseases at birth