In this report we present 6 individuals from 3 families with infantile phosphoglycerate dehydrogenase (PGDH) deficiency who presented with psychomotor delay, growth failure, microcephaly, and spasticity. [pesquisa.bvsalud.org]

Patients with the infantile phenotype presents with (congenital) microcephaly, intractable seizures and severe psychomotor retardation. [treatable-id.org]

Therefore, it seems reasonable to assume that other generalised epilepsies can be present in milder forms of 3-PGDH deficiency. [link.springer.com]

• Congestive Heart Failure

  heart failure Cardiomyopathy: Vacuolar; Cardiomegaly, Biventricular hypertrophy Glycogen: Increased in myocardium Phosphorylase kinase activity: Absent in myocardium Respiratory Failure Pulmonary edema Macroglossia : Some patients Death: 3 weeks to 5 [neuromuscular.wustl.edu]

  heart failure syndrome X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome X-linked intellectual disability-craniofacioskeletal syndrome X-linked intellectual [se-atlas.de]

• Vomiting

  Lower amounts of these hormones may cause weakness, weight loss, skin changes, vomiting, and coma. It is more common for boys to be affected than girls. [natera.com]

  Clinical Features: Some of the symptoms of Hyperlysinemia incude: Vomiting Increased blood ammonia levels Abdominal pain Diarrhea Dehydration More [humandiseaseinsight.com]

  Patients with holocarboxylase synthase deficiency show acuteonset of lethargy, hypothonia, vomiting, hypothermia and seizures within the first days of life. [graphyonline.com]

  The characteristic phenotype of this condition is quite variable, but may … include developmental delay in early childhood, seizures, hypotonia, diarrhea, vomiting, metabolic … acidosis, hypoglycemia, ketosis, abnormal urinary compounds, lactic acidemia [smpdb.ca]

  Holocarboxylase deficiency nset: few houres after birth to 8 years of age. cute presentation with symptoms very similar to those with severe organic acidurias lethargy,hypotonia,vomiting,sz and hypothermia. evere metabolic acidosis ,ketosis and hyperammonemia [slideshare.net]

• Failure to Thrive

  Clinical onset may be at birth with deafness and blindness, severe hypotonia and failure to thrive [38]. A retinopathic "leopard spot" is a pathognomonic sign. [graphyonline.com]

  […] to thrive, Chronic autoinflammation & Recurrent sepsis RBCK1 protein E3 ubiquitin -protein ligase Interacts with EYA1 phosphatase: Involved in myogenesis (High in nuclei of fast-twitch muscle fibers) Iron regulatory protein 2 (IRP2) Forms linear ubiquitin [neuromuscular.wustl.edu]

  […] to thrive-microcephaly due to ASXL3 deficiency syndrome Severe intellectual disability and progressive spastic paraplegia Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia Severe intellectual disability-poor language-strabismus-grimacing [se-atlas.de]

• Nausea

  Other symptoms are rare and highly variable but may include nausea after exercise, variable degrees of mental retardation, seizures and haemolytic anaemia. [mda.org.au]

  […] glycolysis Rate limiting step in glycolysis Clinical features: Some features similar to McArdle's Onset: 2nd to 4th decade Exercise intolerance Muscle cramps & Myoglobinuria after vigorous exercise Cramps relieved by rest Pain may be associated with nausea [neuromuscular.wustl.edu]

• Hepatomegaly

  Ultimately, hepatomegaly appears, and the tongue may become enlarged and may protrude awkwardly. Skeletal muscles are small and firm, and the stretch reflexes are depressed. [emedicine.medscape.com]

  Death: 4 years Childhood: Weakness: Resolves at puberty Liver dysfunction & Hepatomegaly (100%) Growth retardation Hypoglycemia ± Seizures Adult Onset: 3rd to 6th decade Weakness Distal: Calves & peroneal muscles Proximal Respiratory failure May have [neuromuscular.wustl.edu]

  The presence of hepatomegaly and other signs of systemic involvement (e.g., cataracts, coarse facies, dysostosis multiplex) may suggest storage disorders of glycosaminoglycans. [neupsykey.com]

  Acidemia When untreated, dysfunction of the enzyme 3-hydroxy-3-methylglutaryl CoA lyase (which cleaves 3-hydroxy-3-methylglutaryl CoA into acetyl CoA and acetoacetate) leads to metabolic acidosis with absent ketone production, lactic acidemia, hypoglycemia hepatomegaly [hindawi.com]

• Myalgia

  II deficiency Most common cause of recurrent myoglobinuria Myoglobinuria occurs after moderate exercise or prolonged fasting Mitochondrial disorders Complex III, or I or IV Premature fatigue or breathlessness after normal activities of daily living Myalgias [neuromuscular.wustl.edu]

• Hydrops Fetalis

  fetalis, dysostosis multiplex) occur with the lysosomal disorders. [neupsykey.com]

• Psychomotor Retardation

  This potentially treatable disease should be borne in mind in patients with congenital microcephaly, psychomotor retardation and seizures. [pubmed.ncbi.nlm.nih.gov]

  Patients with the infantile phenotype presents with (congenital) microcephaly, intractable seizures and severe psychomotor retardation. [treatable-id.org]

  Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures as [pesquisa.bvsalud.org]

  Get Update Overview Phosphoglycerate dehydrogenase deficiency is an autosomal recessive inborn error of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures (summary by {3:Jaeken et al., 1996}). [diseaseinfosearch.org]

• Seizure

  We report a 4 1/2-year-old boy who presented with congenital microcephaly, psychomotor retardation, hypertonia, strabismus, and drug-resistant seizures due to 3-PGDH deficiency. His seizures responded to L-serine and glycine supplementation only. [pubmed.ncbi.nlm.nih.gov]

  In some patients the seizures completely resolved while in others seizures reappeared after some period, albeit in a lower frequency. [link.springer.com]

  The phenotype was variable with absence of seizures in 2 sisters in family 1 and 1 infant in family 2 and seizures with pronounced happy affect in 3 sisters in family 3. [wwww.unboundmedicine.com]

• Convulsions

  When people think of seizures, they often think of convulsions in which a person's body shakes rapidly and uncontrollably. Not all seizures cause convulsions. There are many types of seizures and some have mild symptoms. [medlineplus.gov]

  Without early treatment, seizures may progress to tonic-clonic seizures, which involve a loss of consciousness, muscle rigidity, and convulsions; myoclonic seizures, which involve rapid, uncontrolled muscle jerks; or drop attacks, which are sudden episodes [ghr.nlm.nih.gov]

  Pediatr Res. 2006 Feb;59(2):332-5. [ PubMed:16439602 ] Livingston JH, Brown JK, Harkness RA, McCreanor GM: Cerebrospinal fluid nucleotide metabolites following non-convulsive status epilepticus. [hmdb.ca]

  Mitochondrial disorders % of all children with infantile spasms suffer from a mitochondrial disease (Sadleir et al.2004). tatus Epilepticus is also seen which is either convulsive or non- convulsive. pilepsia partialis continua Alpers’ disease and some [slideshare.net]

Because of congenital cataracts and mild mental retardation, a metabolic workup was performed to search for inborn errors of metabolism causing peripheral neuropathies.5 Amino acid chromatography showed low serine levels in plasma (0.35 mg/dL [reference [jamanetwork.com]

• Hypoglycemia

  Hypothyroidism Krabbe Disease (Globoid Cell Leukodystrophy) Leber Congenital Amaurosis Leigh and Leigh-Like Syndrome Lipid Storage Disorders Lipodystrophy Maturity-Onset Diabetes Of The Young Medium Chain Acyl-CoA Dehydrogenase Deficiency Metabolic Hypoglycemia [preventiongenetics.com]

  Very long chain acyl-CoA dehydrogenase deficiency (VLCAD) Hypoglycemia (ketotic or nonketotic) Medium chain acyl-CoA dehydrogenase deficiency (MCAD) Hypoketotic hypoglycemia Medium chain 3-ketoacyl-CoA thiolase deficiency (MCKAT) Ketotic lactic aciduria [hindawi.com]

  […] investigations at the time of hypoglycemia. 21. [slideshare.net]

  Hypoglycemia must be avoided in patients with fatty acid oxidation defects, glycogen storage disorders, and disorders of gluconeogenesis. [neupsykey.com]

  A sharp contrast can be seen between the gross motor dysfunction and the normal mental development. [2, 3, 4] Although the liver becomes progressively enlarged, neither hypoglycemia nor ketosis is noted, and the mobilization of glycogen by glucagon or [emedicine.medscape.com]

• Liver Biopsy

  In hereditary fructose intolerance and dihydropyrimidinase deficiency, screening for the disease mutation in blood obviates the need for liver biopsy. [neupsykey.com]

The initiation of serine treatment had pronounced effect on seizures and spasticity in the sisters in family 3, but minimal developmental effects on the children in families 1 and 2. [wwww.unboundmedicine.com]

The values of CSF and plasma serine normalised during treatment. His CSF serine rose from 9 to 29 μmol/L after 4 months of treatment. Developmental testing showed no progress in IQ score (IQ 50). [link.springer.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Motor Nerve Conduction Study Findings Before Treatment Table. [jamanetwork.com]

Treatment yridoxal 5 -phosphate (Oral) dose is 30–50mg/kg/day in 3-4 divided doses. * PLP with low dose of ACTH has been used as treatment of infantile spasm with West syndrome in Jaban. 51. [slideshare.net]

Prognosis Severity varies, but myopathic syndrome is usually slowly progressive. [mda.org.au]

Prognosis rognosis : despite medical therapy neurodevelopmental delay especially with late onset seizure particularly in expressive language delay. arly diagnosis and effective treatment will improve the outcome. 44. [slideshare.net]

Vitamin B 12 given for late-onset forms of MMA due to defects of adenosylcobalamin metabolism leads to a sustained decrease of toxic metabolites and a favorable developmental prognosis. [neupsykey.com]

Early Myoclonic Encephalopathy (EME) is one of the most severe, drug-resistant epilepsy with poor prognosis with onset within the neonatal age mostly occurring in newborns with IEMs. [graphyonline.com]

Subcell Biochem 46: 167–81 CrossRef PubMed Google Scholar Rogers RC, Stevenson RE, Simensen RJ, et al. (2008) Finding new etiologies of mental retardation and hypotonia: X marks the spot. [link.springer.com]

Etiology : Biotinidase gene mutation localized at chromosome 3p25. eurological manifestation: hypotonia, lethargy, seizures. allmark: skin rash and alopecia. reatment: 5-20 mg/day. 58. [slideshare.net]

Although 40-50% of them are secondary to hypoxicischemic encephalopathy (HIE), other less frequent etiologies must be taken into account in the diagnostic work-up including infections, cortical malformations (readily identifiable through routine testing [graphyonline.com]

[…] malformation syndrome Spondylocostal dysostosis-hypospadias-intellectual disability syndrome Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia, Nishimura type Sporadic Creutzfeldt-Jakob disease Sporadic adult-onset ataxia of unknown etiology [se-atlas.de]

2 : Xq24 Phosphorylase (McArdle's), severe phenotype: 11q13 Triosephosphate isomerase : 12p13 Acid Maltase Deficiency (Glycogen storage disease 2 (GSD2); Pompe disease) ● Acid α-1,4-glucosidase (GAA) ; Chromosome 17q25.3; Recessive Nosology: LGMD 2V Epidemiology [neuromuscular.wustl.edu]

Relevant External Links for PHGDH Genetic Association Database (GAD) PHGDH Human Genome Epidemiology (HuGE) Navigator PHGDH Atlas of Genetics and Cytogenetics in Oncology and Haematology: PHGDH No data available for Genatlas for PHGDH Gene Novel mutations [genecards.org]

Vasudevan C, Levene M (2013) Epidemiology and aetiology of neonatal seizures. Semin Fetal Neonatal Med 18: 185-191. [graphyonline.com]

Références Stockler S, Schutz PW, Salomons GS (2007) Cerebral creatine deficiency syndromes: clinical aspects, treatment, pathophysiology. [link.springer.com]

Disease Explained: 3-phosphoglycerate dehydrogenase deficiency is an inherited condition that prevents the body from synthesizing the amino acid serine. [nxgenmdx.com]

Early diagnosis in index cases allows supplementation in serine and prevention of fixed lesions. Prenatal diagnosis and genetic counseling allows prevention of secondary cases. [thieme-connect.com]

Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice. [books.google.com]

There is a very strict window-of-opportunity to prevent developmental delay in patients with infantile and juvenile onset of phenotypes. [content.iospress.com]

In children with GSDs, carbohydrate supplements prevent hypoglycemia and suppress secondary metabolic derangements (e.g., hyperlipidemia, hyperuricemia). [neupsykey.com]