Inborn disorder of serine family metabolism

MONDO:0019239

An inherited metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process.

Also known as: inborn disorder of serine or glycine metabolism, inborn error of serine family amino acid metabolic process, inborn serine family amino acid metabolic process disorder, rare inborn error of serine family amino acid metabolic process, disorder of serine or glycine metabolism

1 clinical trial for this condition and its sub-types, 0 tagged with Inborn disorder of serine family metabolism itself.

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Where it sits in the disease tree

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↑ Inborn disorder of amino acid and other organic acid metabolism (225)

Sub-types of Inborn disorder of serine family metabolism

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
Glycine encephalopathy 0 trials
5 sub-types
- Atypical glycine encephalopathy 0 trials
- Glycine encephalopathy 1 0 trials
- Glycine encephalopathy 2 0 trials
- Infantile glycine encephalopathy 0 trials
- Neonatal glycine encephalopathy 0 trials
Inborn disorder of glycine and serine metabolism 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 disorder of serine family metabolism (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 disorder of serine family metabolism

Where it sits in the disease tree

Most studied deeper sub-types

Newborn screening study aims to catch rare diseases at birth