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Argininemia as a cause of severe chronic stunting and partial growth hormone deficiency (PGHD): A case report.

Abstract Argininemia is an autosomal recessive inherited disorder of the urea cycle. Because of its atypical symptoms in early age, diagnosis can be delayed until the typical chronic manifestations - including spastic diplegia, deterioration in cognitive function, and epilepsy - appear in later childhood.
PMID
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Authors

Mayor MeshTerms

Growth Disorders

Hyperargininemia

Keywords
Journal Title medicine
Publication Year Start




PMID- 29443755
OWN - NLM
STAT- MEDLINE
DCOM- 20180222
LR  - 20180222
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 97
IP  - 7
DP  - 2018 Feb
TI  - Argininemia as a cause of severe chronic stunting and partial growth hormone
      deficiency (PGHD): A case report.
PG  - e9880
LID - 10.1097/MD.0000000000009880 [doi]
AB  - RATIONALE: Argininemia is an autosomal recessive inherited disorder of the urea
      cycle. Because of its atypical symptoms in early age, diagnosis can be delayed
      until the typical chronic manifestations - including spastic diplegia,
      deterioration in cognitive function, and epilepsy - appear in later childhood.
      PATIENT CONCERNS: A Chinese boy initially presented with severe stunting and
      partial growth hormone deficiency (PGHD) at 3 years old and was initially treated
      with growth hormone replacement therapy. Seven years later (at 10 years old), he 
      presented with spastic diplegia, cognitive function lesions, epilepsy, and
      peripheral neuropathy. DIAGNOSES: Ultimately, the patient was diagnosed with
      argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. 
      Blood tests showed mildly elevated blood ammonia and creatine kinase, and
      persistently elevated bilirubin. INTERVENTIONS: Protein intake was limited to 0.8
      g/kg/day, citrulline (150-200 mg [kg d]) was prescribed. OUTCOMES: The patient's 
      mental state and vomiting had improved after 3 months treatment. At 10 years and 
      9 month old, his height and weight had reached 121cm and 22kg, respectively, but 
      his spastic diplegia symptoms had not improved. LESSONS: This case demonstrates
      that stunting and PGHD that does not respond to growth hormone replacement
      therapy might hint at inborn errors of metabolism (IEM). IEM should also be
      considered in patients with persistently elevated bilirubin with or without
      abnormal liver transaminase, as well as elevated blood ammonia and creatine
      kinase, in the absence of hepatic disease.
FAU - Cai, Xiaotang
AU  - Cai X
AD  - Department of Pediatrics, West China Second University Hospital.
AD  - Key Laboratory of Obstetric and Gynaecologic and Pediatric Diseases and Birth
      Defects of Ministry of Education, Sichuan University, Chengdu, Sichuan, China.
FAU - Yu, Dan
AU  - Yu D
AD  - Department of Pediatrics, West China Second University Hospital.
AD  - Key Laboratory of Obstetric and Gynaecologic and Pediatric Diseases and Birth
      Defects of Ministry of Education, Sichuan University, Chengdu, Sichuan, China.
FAU - Xie, Yongmei
AU  - Xie Y
AD  - Department of Pediatrics, West China Second University Hospital.
AD  - Key Laboratory of Obstetric and Gynaecologic and Pediatric Diseases and Birth
      Defects of Ministry of Education, Sichuan University, Chengdu, Sichuan, China.
FAU - Zhou, Hui
AU  - Zhou H
AD  - Department of Pediatrics, West China Second University Hospital.
AD  - Key Laboratory of Obstetric and Gynaecologic and Pediatric Diseases and Birth
      Defects of Ministry of Education, Sichuan University, Chengdu, Sichuan, China.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - 9002-72-6 (Growth Hormone)
RN  - EC 3.5.3.1 (Arginase)
RN  - RFM9X3LJ49 (Bilirubin)
SB  - AIM
SB  - IM
MH  - Arginase/genetics
MH  - Bilirubin/analysis
MH  - Child
MH  - Child, Preschool
MH  - Diagnosis, Differential
MH  - *Growth Disorders/diagnosis/etiology
MH  - Growth Hormone/analysis/deficiency/therapeutic use
MH  - Hormone Replacement Therapy/adverse effects/methods
MH  - Humans
MH  - *Hyperargininemia/diagnosis/genetics/physiopathology/therapy
MH  - Male
MH  - Mutation
EDAT- 2018/02/15 06:00
MHDA- 2018/02/23 06:00
CRDT- 2018/02/15 06:00
PHST- 2018/02/15 06:00 [entrez]
PHST- 2018/02/15 06:00 [pubmed]
PHST- 2018/02/23 06:00 [medline]
AID - 10.1097/MD.0000000000009880 [doi]
AID - 00005792-201802160-00029 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2018 Feb;97(7):e9880. doi: 10.1097/MD.0000000000009880.