Phosphoglycerate Dehydrogenase Deficiency

Alternative Names

  • PHGDHD
  • PHGDH Deficiency
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

601815

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1p12

Description

Phosphoglycerate dehydrogenase deficiency is an autosomal recessive disorder of serine biosynthesis. It is characterized by microcephaly, psychomotor retardation and seizure. Different types were described based on the severity and age of onset. Without prompt treatment, seizures may progress to tonic-clonic seizures, which involve a loss of consciousness and muscle rigidity. Patients can be treated with a combination of L-serine and glycine.

Molecular Genetics

Mutations in the 3-Phosphoglycerate dehydrogenase (PHGDH) gene cause Phosphoglycerate dehydrogenase deficiency. This gene is located on the short arm of chromosome 1 and codes for a protein of 533 amino acids with a molecular mass of 56.8 kD. Mutations in this gene cause lack of serine production and thus affect the production of neurotransmitters in the brain.  

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
256520.2United Arab EmiratesMaleNoYes Severe intrauterine growth retardation;...NM_006623.3:c.1286G>THomozygousAutosomal, RecessiveEl-Hattab et al. 2016
601815.1United Arab EmiratesMaleYesNo Microcephaly; Global developmental delay...NM_006623.3:c.1286G>THomozygousAutosomal, RecessiveSaleh et al. 2021 Cousin with seizures
601815.2United Arab EmiratesMaleNoNo Intrauterine growth retardation; Microce...NM_006623.3:c.1286G>THomozygousAutosomal, RecessiveAlabdullatif et al. 2017 Parents from the sam...

Other Reports

Saudi Arabia

Moammar et al. (2010) reviewed all patients diagnosed with inborn errors of metabolism (IEM) from 1983 to 2008 at Saudi Aramco medical facilities in the Eastern province of Saudi Arabia. During the study period, 165530 Saudi infants were born, of whom a total of 248 newborns were diagnosed with 55 IEM. Affected patients were evaluated based on clinical manifestations or family history of similar illness and/or unexplained neonatal deaths. Almost all patients were born to consanguineous parents. Inborn errors of Serine metabolism were found in 2 /248 patients. These two patients belong to a single family. The estimated incidence of phosphoglycerate dehydrogenase deficiency was 1 in 100,000 live births. The authors concluded that data obtained from this study underestimate the true figures of various IEM in the region. Therefore, they recommended starting a centralized newborn screening program that utilizes tandem mass spectrometry, and provides genetic counseling for these families.

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