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Creatine transporter deficiency(CCDS1)

MedGen UID:
337451
Concept ID:
C1845862
Disease or Syndrome
Synonyms: CCDS1; CEREBRAL CREATINE DEFICIENCY SYNDROME 1; Creatine deficiency, X-linked; CREATINE TRANSPORTER DEFECT; Mental retardation , X-linked with seizures, short stature and midface hypoplasia; Mental retardation , X-linked, with creatine transport deficiency; SLC6A8-Related Creatine Transporter Deficiency; X-linked creatine deficiency syndrome; X-linked creatine transporter deficiency
SNOMED CT: X-linked creatine deficiency syndrome (698290008); SLC6A8 related creatine transporter deficiency (698290008); X-linked creatine deficiency (698290008); Creatine transporter deficiency (698290008)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): SLC6A8 (Xq28)
 
Monarch Initiative: MONDO:0010305
OMIM®: 300352
Orphanet: ORPHA52503

Disease characteristics

Excerpted from the GeneReview: Creatine Deficiency Disorders
The creatine deficiency disorders (CDDs), inborn errors of creatine metabolism and transport, comprise three disorders: the creatine biosynthesis disorders guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine:glycine amidinotransferase (AGAT) deficiency; and creatine transporter (CRTR) deficiency. Developmental delay and cognitive dysfunction or intellectual disability and speech-language disorder are common to all three CDDs. Onset of clinical manifestations of GAMT deficiency (reported in ~130 individuals) is between ages three months and two years; in addition to developmental delays, the majority of individuals have epilepsy and develop a behavior disorder (e.g., hyperactivity, autism, or self-injurious behavior), and about 30% have movement disorder. AGAT deficiency has been reported in 16 individuals; none have had epilepsy or movement disorders. Clinical findings of CRTR deficiency in affected males (reported in ~130 individuals) in addition to developmental delays include epilepsy (variable seizure types and may be intractable) and behavior disorders (e.g., attention deficit and/or hyperactivity, autistic features, impulsivity, social anxiety), hypotonia, and (less commonly) a movement disorder. Poor weight gain with constipation and prolonged QTc on EKG have been reported. While mild-to-moderate intellectual disability is commonly observed up to age four years, the majority of adult males with CRTR deficiency have been reported to have severe intellectual disability. Females heterozygous for CRTR deficiency are typically either asymptomatic or have mild intellectual disability, although a more severe phenotype resembling the male phenotype has been reported. [from GeneReviews]
Authors:
Saadet Mercimek-Andrews  |  Gajja S Salomons   view full author information

Additional descriptions

From OMIM
Cerebral creatine deficiency syndrome-1 (CCDS1) is an X-linked disorder of creatine (Cr) transport characterized by mental retardation, severe speech delay, behavioral abnormalities, and seizures. It has a prevalence of 0.3 to 3.5% in males. Carrier females may show mild neuropsychologic impairment (summary by van de Kamp et al., 2011). Genetic Heterogeneity of Cerebral Creatine Deficiency Syndrome See also CCDS2 (612736), caused by mutation in the GAMT gene (601240) on chromosome 19p13, and CCDS3 (612718), caused by mutation in the AGAT gene (GATM; 602360) on chromosome 15q21.  http://www.omim.org/entry/300352
From MedlinePlus Genetics
X-linked creatine deficiency is an inherited disorder that primarily affects the brain. People with this disorder have intellectual disability, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as attention-deficit/hyperactivity disorder (ADHD) or autistic behaviors that affect communication and social interaction. They may also experience seizures. Children with X-linked creatine deficiency may grow slower and develop motor skills, such as sitting and walking, later than their peers. Affected individuals tend to tire easily.

A small number of people with X-linked creatine deficiency have additional signs and symptoms including abnormal heart rhythms, an unusually small head (microcephaly), or distinctive facial features such as a broad forehead and a flat or sunken appearance of the middle of the face (midface hypoplasia).  https://medlineplus.gov/genetics/condition/x-linked-creatine-deficiency

Clinical features

From HPO
Elevated urinary creatine/creatinine ratio
MedGen UID:
1054304
Concept ID:
CN376636
Finding
The ratio of creatine to creatinine concentration in the urine is above the upper limit of normal.
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
Prolonged QT interval
MedGen UID:
57494
Concept ID:
C0151878
Finding
Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
Tall stature
MedGen UID:
69137
Concept ID:
C0241240
Finding
A height above that which is expected according to age and gender norms.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Constipation
MedGen UID:
1101
Concept ID:
C0009806
Sign or Symptom
Infrequent or difficult evacuation of feces.
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Ileus
MedGen UID:
219874
Concept ID:
C1258215
Disease or Syndrome
Acute obstruction of the intestines preventing passage of the contents of the intestines.
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Underfolded superior helices
MedGen UID:
870218
Concept ID:
C4024655
Anatomical Abnormality
A condition in which the superior portion of the helix is folded over to a lesser degree than normal.
Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
Dystonic disorder
MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Aganglionic megacolon
MedGen UID:
5559
Concept ID:
C0019569
Disease or Syndrome
The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid (Amiel et al., 2008). Total colonic aganglionosis and total intestinal HSCR also occur. Genetic Heterogeneity of Hirschsprung Disease Several additional loci for isolated Hirschsprung disease have been mapped. HSCR2 (600155) is associated with variation in the EDNRB gene (131244) on 13q22; HSCR3 (613711) is associated with variation in the GDNF gene (600837) on 5p13; HSCR4 (613712) is associated with variation in the EDN3 gene (131242) on 20q13; HSCR5 (600156) maps to 9q31; HSCR6 (606874) maps to 3p21; HSCR7 (606875) maps to 19q12; HSCR8 (608462) maps to 16q23; and HSCR9 (611644) maps to 4q31-q32. HSCR also occurs as a feature of several syndromes including the Waardenburg-Shah syndrome (277580), Mowat-Wilson syndrome (235730), Goldberg-Shprintzen syndrome (609460), and congenital central hypoventilation syndrome (CCHS; 209880). Whereas mendelian modes of inheritance have been described for syndromic HSCR, isolated HSCR stands as a model for genetic disorders with complex patterns of inheritance. Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance. The development of surgical procedures decreased mortality and morbidity, which allowed the emergence of familial cases. HSCR occurs as an isolated trait in 70% of patients, is associated with chromosomal anomaly in 12% of cases, and occurs with additional congenital anomalies in 18% of cases (summary by Amiel et al., 2008).
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Motor stereotypies
MedGen UID:
21318
Concept ID:
C0038271
Individual Behavior
Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.
Impaired social interactions
MedGen UID:
57707
Concept ID:
C0150080
Mental or Behavioral Dysfunction
Difficulty interacting with others through emotional, physical, or verbal communication.
Speech apraxia
MedGen UID:
78112
Concept ID:
C0264611
Disease or Syndrome
A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Broad-based gait
MedGen UID:
167799
Concept ID:
C0856863
Finding
An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
Attention deficit hyperactivity disorder
MedGen UID:
220387
Concept ID:
C1263846
Mental or Behavioral Dysfunction
Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.
Delayed myelination
MedGen UID:
224820
Concept ID:
C1277241
Finding
Delayed myelination.
Poor hand-eye coordination
MedGen UID:
375756
Concept ID:
C1845864
Finding
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Reduced brain creatine level by MRS
MedGen UID:
1369880
Concept ID:
C4476570
Finding
A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).
Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Axial hypotonia
MedGen UID:
342959
Concept ID:
C1853743
Finding
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Neonatal hypotonia
MedGen UID:
412209
Concept ID:
C2267233
Disease or Syndrome
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Elevated circulating creatine concentration
MedGen UID:
1815053
Concept ID:
C5706147
Finding
An elevation above the normal range of creatine in the blood circulation.
Myopathic facies
MedGen UID:
90695
Concept ID:
C0332615
Finding
A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.
Mandibular prognathia
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Long face
MedGen UID:
324419
Concept ID:
C1836047
Finding
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Narrow face
MedGen UID:
373334
Concept ID:
C1837463
Finding
Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).
Broad forehead
MedGen UID:
338610
Concept ID:
C1849089
Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Exotropia
MedGen UID:
4613
Concept ID:
C0015310
Disease or Syndrome
A form of strabismus with one or both eyes deviated outward.
Hypermetropia
MedGen UID:
43780
Concept ID:
C0020490
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Creatine transporter deficiency in Orphanet.

Professional guidelines

PubMed

Bruun TUJ, Sidky S, Bandeira AO, Debray FG, Ficicioglu C, Goldstein J, Joost K, Koeberl DD, Luísa D, Nassogne MC, O'Sullivan S, Õunap K, Schulze A, van Maldergem L, Salomons GS, Mercimek-Andrews S
Metab Brain Dis 2018 Jun;33(3):875-884. Epub 2018 Feb 12 doi: 10.1007/s11011-018-0197-3. PMID: 29435807
Dunbar M, Jaggumantri S, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD
Mol Genet Metab 2014 Aug;112(4):259-74. Epub 2014 May 29 doi: 10.1016/j.ymgme.2014.05.011. PMID: 24953403
Stockler S, Schutz PW, Salomons GS
Subcell Biochem 2007;46:149-66. doi: 10.1007/978-1-4020-6486-9_8. PMID: 18652076

Recent clinical studies

Etiology

Passi GR, Pandey S, Devi ARR, Konanki R, Jain AR, Bhatnagar S, Tripathi R, Jain V
Brain Dev 2022 Apr;44(4):271-280. Epub 2021 Dec 30 doi: 10.1016/j.braindev.2021.12.004. PMID: 34974949
Levin MD, Bianconi S, Smith A, Cawley NX, Do AD, Hammond D, Grafstein JF, Thurm A, Miller J, Perreault J, Noguchi A, Springer D, Kozel BA, Spurney CF, Wassif CA, Yu ZX, Schulze A, Porter FD, Hannah-Shmouni F
Genet Med 2021 Oct;23(10):1864-1872. Epub 2021 May 28 doi: 10.1038/s41436-021-01224-8. PMID: 34050321Free PMC Article
Miller JS, Thomas RP, Bennett A, Bianconi S, Bruchey A, Davis RJ, Ficicioglu C, Guthrie W, Porter FD, Thurm A
J Pediatr 2019 Mar;206:283-285. Epub 2018 Dec 20 doi: 10.1016/j.jpeds.2018.11.008. PMID: 30579583Free PMC Article
Stockler-Ipsiroglu S, van Karnebeek CD
Semin Neurol 2014 Jul;34(3):350-6. Epub 2014 Sep 5 doi: 10.1055/s-0034-1386772. PMID: 25192512
Nasrallah F, Feki M, Kaabachi N
Pediatr Neurol 2010 Mar;42(3):163-71. doi: 10.1016/j.pediatrneurol.2009.07.015. PMID: 20159424

Diagnosis

Mejdahl Nielsen M, Petersen ET, Fenger CD, Ørngreen MC, Siebner HR, Boer VO, Považan M, Lund A, Grønborg SW, Hammer TB
Mol Genet Metab 2023 Nov;140(3):107694. Epub 2023 Aug 30 doi: 10.1016/j.ymgme.2023.107694. PMID: 37708665
Ghirardini E, Calugi F, Sagona G, Di Vetta F, Palma M, Battini R, Cioni G, Pizzorusso T, Baroncelli L
Genes (Basel) 2021 Jul 24;12(8) doi: 10.3390/genes12081123. PMID: 34440297Free PMC Article
Miller JS, Thomas RP, Bennett A, Bianconi S, Bruchey A, Davis RJ, Ficicioglu C, Guthrie W, Porter FD, Thurm A
J Pediatr 2019 Mar;206:283-285. Epub 2018 Dec 20 doi: 10.1016/j.jpeds.2018.11.008. PMID: 30579583Free PMC Article
van de Kamp JM, Mancini GM, Salomons GS
J Inherit Metab Dis 2014 Sep;37(5):715-33. Epub 2014 May 1 doi: 10.1007/s10545-014-9713-8. PMID: 24789340
Nasrallah F, Feki M, Kaabachi N
Pediatr Neurol 2010 Mar;42(3):163-71. doi: 10.1016/j.pediatrneurol.2009.07.015. PMID: 20159424

Therapy

Gorshkov K, Wang AQ, Sun W, Fisher E, Frigeni M, Singleton M, Thorne N, Class B, Huang W, Longo N, Do MT, Ottinger EA, Xu X, Zheng W
Pharmacol Res Perspect 2019 Dec;7(6):e00525. doi: 10.1002/prp2.525. PMID: 31859463Free PMC Article
Bruun TUJ, Sidky S, Bandeira AO, Debray FG, Ficicioglu C, Goldstein J, Joost K, Koeberl DD, Luísa D, Nassogne MC, O'Sullivan S, Õunap K, Schulze A, van Maldergem L, Salomons GS, Mercimek-Andrews S
Metab Brain Dis 2018 Jun;33(3):875-884. Epub 2018 Feb 12 doi: 10.1007/s11011-018-0197-3. PMID: 29435807
Dunbar M, Jaggumantri S, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD
Mol Genet Metab 2014 Aug;112(4):259-74. Epub 2014 May 29 doi: 10.1016/j.ymgme.2014.05.011. PMID: 24953403
Fons C, Arias A, Sempere A, Póo P, Pineda M, Mas A, López-Sala A, Garcia-Villoria J, Vilaseca MA, Ozaez L, Lluch M, Artuch R, Campistol J, Ribes A
Mol Genet Metab 2010 Mar;99(3):296-9. Epub 2009 Nov 1 doi: 10.1016/j.ymgme.2009.10.186. PMID: 19955008
Wyss M, Schulze A
Neuroscience 2002;112(2):243-60. doi: 10.1016/s0306-4522(02)00088-x. PMID: 12044443

Prognosis

Abdennadher M, Inati SK, Rahhal S, Khan O, Bartolini L, Thurm A, Theodore W, Miller JS, Porter FD, Bianconi S
Am J Med Genet A 2024 Feb;194(2):337-345. Epub 2023 Oct 18 doi: 10.1002/ajmg.a.63418. PMID: 37850681
Passi GR, Pandey S, Devi ARR, Konanki R, Jain AR, Bhatnagar S, Tripathi R, Jain V
Brain Dev 2022 Apr;44(4):271-280. Epub 2021 Dec 30 doi: 10.1016/j.braindev.2021.12.004. PMID: 34974949
Yıldız Y, Göçmen R, Yaramış A, Coşkun T, Haliloğlu G
Pediatrics 2020 Nov;146(5) doi: 10.1542/peds.2019-3460. PMID: 33093139
van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS
J Med Genet 2013 Jul;50(7):463-72. Epub 2013 May 3 doi: 10.1136/jmedgenet-2013-101658. PMID: 23644449
Sempere A, Fons C, Arias A, Rodríguez-Pombo P, Colomer R, Merinero B, Alcaide P, Capdevila A, Ribes A, Artuch R, Campistol J
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S91-6. Epub 2009 Mar 25 doi: 10.1007/s10545-009-1083-2. PMID: 19319661

Clinical prediction guides

Levin MD, Bianconi S, Smith A, Cawley NX, Do AD, Hammond D, Grafstein JF, Thurm A, Miller J, Perreault J, Noguchi A, Springer D, Kozel BA, Spurney CF, Wassif CA, Yu ZX, Schulze A, Porter FD, Hannah-Shmouni F
Genet Med 2021 Oct;23(10):1864-1872. Epub 2021 May 28 doi: 10.1038/s41436-021-01224-8. PMID: 34050321Free PMC Article
El-Kasaby A, Kasture A, Koban F, Hotka M, Asjad HMM, Kubista H, Freissmuth M, Sucic S
Neuropharmacology 2019 Dec 15;161:107572. Epub 2019 Mar 15 doi: 10.1016/j.neuropharm.2019.03.015. PMID: 30885608
Bruun TUJ, Sidky S, Bandeira AO, Debray FG, Ficicioglu C, Goldstein J, Joost K, Koeberl DD, Luísa D, Nassogne MC, O'Sullivan S, Õunap K, Schulze A, van Maldergem L, Salomons GS, Mercimek-Andrews S
Metab Brain Dis 2018 Jun;33(3):875-884. Epub 2018 Feb 12 doi: 10.1007/s11011-018-0197-3. PMID: 29435807
Perna MK, Kokenge AN, Miles KN, Udobi KC, Clark JF, Pyne-Geithman GJ, Khuchua Z, Skelton MR
Amino Acids 2016 Aug;48(8):2057-65. Epub 2016 Jul 11 doi: 10.1007/s00726-016-2291-3. PMID: 27401086Free PMC Article
Fons C, Arias A, Sempere A, Póo P, Pineda M, Mas A, López-Sala A, Garcia-Villoria J, Vilaseca MA, Ozaez L, Lluch M, Artuch R, Campistol J, Ribes A
Mol Genet Metab 2010 Mar;99(3):296-9. Epub 2009 Nov 1 doi: 10.1016/j.ymgme.2009.10.186. PMID: 19955008

Recent systematic reviews

Dunbar M, Jaggumantri S, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD
Mol Genet Metab 2014 Aug;112(4):259-74. Epub 2014 May 29 doi: 10.1016/j.ymgme.2014.05.011. PMID: 24953403

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