Spasticity, Childhood-onset, With Hyperglycinemia; Spahgc

Description

Childhood-onset spasticity with hyperglycinemia is an autosomal recessive disorder characterized by onset of slowly progressive spasticity that results in impaired gait in the first decade of life. Imaging of the central nervous system shows leukodystrophy and/or lesions in the upper spinal cord. More variable features include visual defects and mild learning disabilities. Serum glycine is increased, but CSF glycine is only mildly increased or normal; serum lactate is normal. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; {605899}), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including SPAHGC, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).

Clinical Features

Top most frequent phenotypes and symptoms related to Spasticity, Childhood-onset, With Hyperglycinemia; Spahgc

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus
  • Spasticity
  • Visual impairment
  • Feeding difficulties
  • Hyperreflexia
  • Dysarthria
And another 22 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Spasticity, Childhood-onset, With Hyperglycinemia; Spahgc Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
GLRX5 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

GLRX5
Specificity
100 %
Genes
100 %
Glutaredoxin 5 deficiency (GLRX5).

By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.

GLRX5
Specificity
100 %
Genes
100 %
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

GLRX5
Specificity
100 %
Genes
100 %
Congenital sideroblastic anemia panel.

By Centogene AG - the Rare Disease Company in Germany.

YARS2, ALAS2, PUS1, ABCB7, SLC25A38, GLRX5, SLC19A2, TRNT1
Specificity
13 %
Genes
100 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Hereditary Sideroblastic Anemia.

By Asper Biogene Asper Biogene LLC in Estonia.

YARS2, ALAS2, PUS1, ABCB7, SLC25A38, GLRX5, SLC19A2, TRNT1, HSPA9
Specificity
12 %
Genes
100 %
NGS Panel for Congenital and Acquired Sideroblastic Anemia.

By BLOODGENETICS BLOODGENETICS in Spain.

YARS2, ALAS2, PUS1, ABCB7, SLC25A38, GLRX5, MT-ATP6, SLC19A2, LARS2, SF3B1, TRNT1, STEAP3, NDUFB11, HSPA9
Specificity
8 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
GLRX5.

By Fulgent Genetics Fulgent Genetics in United States.

GLRX5
Specificity
100 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel.

By Blueprint Genetics in Finland.

LIAS, BOLA3, NFU1, GCSH, GLDC, AMT, GLRX5, LIPT1, SLC6A9
Specificity
12 %
Genes
100 %
Sideroblastic Anemia , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

YARS2, ALAS2, PUS1, ABCB7, SLC25A38, GLRX5
Specificity
17 %
Genes
100 %

Alternate names

Spasticity, Childhood-onset, With Hyperglycinemia; Spahgc Is also known as ;childhood-onset spasticity with variant non-ketotic hyperglycinemia; spasticity-ataxia-gait anomalies syndrome.


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